Linked Data
ClinVar Variation Id:
517221
ClinVar RCV Id:
RCV000605921
dbSNP Id:
rs1283214655
gnomAD v4:
13-102862320-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102862322dup , CM000675.2:g.102862322dup | GRCh38 |
| NC_000013.10:g.103514672dup , CM000675.1:g.103514672dup | GRCh37 |
| NC_000013.9:g.102312673dup | NCBI36 |
| NG_007146.1:g.21499dup , LRG_464:g.21499dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.1414dup (ERCC5) | ||
| ENST00000682869.1:n.1822dup (ERCC5) | ||
| ENST00000683246.1:n.1950dup (ERCC5) | ||
| ENST00000639132.1:c.1848dup (BIVM-ERCC5) | ENSP00000492684.1:p.Lys617Ter | |
| ENST00000639435.1:c.2535dup (BIVM-ERCC5) | ENSP00000491742.1:p.Lys846Ter | |
| ENST00000651002.1:c.*934dup (ERCC5) | ENSP00000498809.1:n.*934dup | |
| ENST00000651055.1:n.1302dup (ERCC5) | ||
| ENST00000651281.1:n.1541dup (ERCC5) | ||
| ENST00000651387.1:n.657dup (ERCC5) | ||
| ENST00000651470.1:c.1173dup (ERCC5) | ENSP00000498701.1:p.Lys392Ter | |
| ENST00000652225.2:c.1173dup (ERCC5) MANE Select | ENSP00000498881.2:p.Lys392Ter | |
| ENST00000652613.1:c.669dup (ERCC5) | ENSP00000498357.1:p.Lys224Ter | |
| ENST00000355739.8:c.1173dup (ERCC5) | ENSP00000347978.4:p.Lys392Ter | |
| ENST00000602836.1:c.2449dup (BIVM-ERCC5) | ||
| ENST00000610537.4:c.1173dup (ERCC5) | ENSP00000478667.1:p.Lys392Ter | |
| NM_000123.3:c.1173dup , LRG_464t1:c.1173dup (ERCC5) | NP_000114.2:p.Lys392Ter | |
| NM_001204425.1:c.2535dup (BIVM-ERCC5) | NP_001191354.1:p.Lys846Ter | |
| NM_000123.4:c.1173dup (ERCC5) MANE Select | NP_000114.3:p.Lys392Ter | |
| NM_001204425.2:c.2535dup (BIVM-ERCC5) | NP_001191354.2:p.Lys846Ter |