Assay Details
Target Gene Details
Entrez Gene ID: | 472 |
Gene Name: | ATM serine/threonine kinase |
Gene Aliases: |
AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1 |
Location: |
Chr.11:108222484-108369102 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATM | NM_000051.3 | 13 | 2410 | NP_000042.3 |
XM_005271561.4 | 14 | 2471 | XP_005271618.2 | |
XM_005271562.4 | 13 | 2544 | XP_005271619.2 | |
XM_006718843.3 | 13 | 2177 | XP_006718906.1 | |
XM_011542840.2 | 14 | 2265 | XP_011541142.1 | |
XM_011542842.2 | 12 | 2219 | XP_011541144.1 | |
XM_011542843.2 | 13 | 2758 | XP_011541145.1 | |
XM_011542844.2 | 13 | 2360 | XP_011541146.1 | |
XM_011542845.1 | 5 | 873 | XP_011541147.1 | |
XM_017017789.1 | 14 | 2968 | XP_016873278.1 | |
XM_017017790.1 | 13 | 2365 | XP_016873279.1 | |
XM_017017791.1 | 13 | 2758 | XP_016873280.1 | |
XM_017017792.1 | 13 | 2758 | XP_016873281.1 | |
AF035326.1 | 2 | 203 | AAM09293.1 | |
AF035327.1 | 2 | 179 | AAM09294.1 | |
HM437232.1 | 1 | 130 | ||
U33841.1 | 14 | 2214 | AAC50289.1 | |
X91196.1 | 13 | 2758 | CAA62603.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv556430 | Chr.11:108226606 - 108304735 on Build GRCh38 | Loss | ATM |
nsv832262 | Chr.11:108253104 - 108438623 on Build GRCh38 | Loss | ATM C11orf65 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |