Assay Details
Target Gene Details
Entrez Gene ID: | 54511 |
Gene Name: | 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 |
Gene Aliases: |
bA418P12.1, er-cHL |
Location: |
Chr.6:55434373-55579214 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HMGCLL1 | NM_001042406.1 | 9 | 1620 | NP_001035865.1 |
NM_001287741.1 | 8 | 1524 | NP_001274670.1 | |
NM_001287746.1 | 10 | 1716 | NP_001274675.1 | |
NM_001287753.1 | 6 | 1311 | NP_001274682.1 | |
NM_019036.2 | 10 | 1710 | NP_061909.2 | |
NR_109869.1 | 5 | 1122 | ||
AF131827.1 | 5 | 1014 | AAD20054.1 | |
AK055075.1 | 10 | 1601 | ||
AK127587.1 | 10 | 1681 | BAC87045.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1018622 | Chr.6:55433056 - 55455513 on Build GRCh38 | Loss | HMGCLL1 |
dgv5965n100 | Chr.6:55372925 - 55522683 on Build GRCh38 | Gain | HMGCLL1 GFRAL |
nsv470819 | Chr.6:55372139 - 55504017 on Build GRCh38 | Gain | HMGCLL1 GFRAL |
nsv5311 | Chr.6:55394592 - 55439247 on Build GRCh38 | Deletion | HMGCLL1 GFRAL |
nsv1034037 | Chr.6:55357611 - 56204802 on Build GRCh38 | Gain | COL21A1 HMGCLL1 BMP5 GFRAL |
nsv462948 | Chr.6:55373293 - 55504017 on Build GRCh38 | Gain | HMGCLL1 GFRAL |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |