Assay Details
Target Gene Details
Entrez Gene ID: | 5265 |
Gene Name: | serpin family A member 1 |
Gene Aliases: |
A1A, A1AT, AAT, PI, PI1, PRO2275, alpha1AT |
Location: |
Chr.14:94376747-94390692 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SERPINA1 | NM_000295.4 | 1 | 199 | NP_000286.3 |
NM_001002235.2 | NP_001002235.1 | |||
NM_001002236.2 | 3 | 492 | NP_001002236.1 | |
NM_001127700.1 | NP_001121172.1 | |||
NM_001127701.1 | 3 | 511 | NP_001121173.1 | |
NM_001127702.1 | 2 | 319 | NP_001121174.1 | |
NM_001127703.1 | 3 | 474 | NP_001121175.1 | |
NM_001127704.1 | 3 | 471 | NP_001121176.1 | |
NM_001127705.1 | 3 | 489 | NP_001121177.1 | |
NM_001127706.1 | 2 | 282 | NP_001121178.1 | |
NM_001127707.1 | 2 | 279 | NP_001121179.1 | |
XM_017021370.1 | 2 | 241 | XP_016876859.1 | |
AA317159.1 | ||||
AK026174.1 | ||||
AK315637.1 | 2 | 235 | ||
BC011991.1 | 1 | 170 | AAH11991.1 | |
BC015642.2 | AAH15642.1 | |||
BG483969.1 | ||||
BM844817.1 | 1 | 197 | ||
BP296710.1 | 2 | 222 | ||
BP300943.1 | 2 | 240 | ||
BP301274.1 | 2 | 241 | ||
BX161449.1 | CAD61914.1 | |||
BX247968.1 | 3 | 419 | CAD62306.1 | |
BX248257.1 | CAD62585.1 | |||
BX477352.1 | 1 | 189 | ||
CD685665.1 | 3 | 359 | ||
DA427262.1 | ||||
DA428299.1 | 3 | 477 | ||
DA433050.1 | ||||
DA433058.1 | 3 | 414 | ||
DA672472.1 | 3 | 454 | ||
DA675981.1 | 3 | 431 | ||
DA966896.1 | 1 | 199 | ||
X05826.1 | 3 | 459 | CAA29267.1 | |
X05827.1 | 2 | 250 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv509545 | Chr.14:94360156 - 94400412 on Build GRCh38 | Insertion | SERPINA1 SERPINA2 |
nsv832863 | Chr.14:94348482 - 94501487 on Build GRCh38 | Gain | SERPINA1 SERPINA12 SERPINA9 SERPINA2 SERPINA11 |
nsv470662 | Chr.14:94296542 - 94798793 on Build GRCh38 | Gain | SERPINA1 GSC SERPINA12 SERPINA9 SERPINA13P SERPINA2 SERPINA5 SERPINA6 SERPINA11 SERPINA4 SERPINA3 |
nsv1406 | Chr.14:94361166 - 94394512 on Build GRCh38 | Insertion | SERPINA1 SERPINA2 |
nsv832864 | Chr.14:94362101 - 94538150 on Build GRCh38 | Loss | SERPINA1 SERPINA12 SERPINA9 SERPINA2 SERPINA11 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |