Linked Data
dbSNP Id:
rs551907144
ExAC:
13:103508503 T / TTCA
gnomAD v2:
13-103508503-T-TTCA
gnomAD v3:
13-102856153-T-TTCA
gnomAD v4:
13-102856153-T-TTCA
MyVariant Identifiers:
chr13:g.103508503_103508504insTCA (hg19)
chr13:g.102856153_102856154insTCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102856154_102856155insCAT , CM000675.2:g.102856154_102856155insCAT | GRCh38 |
| NC_000013.10:g.103508504_103508505insCAT , CM000675.1:g.103508504_103508505insCAT | GRCh37 |
| NC_000013.9:g.102306505_102306506insCAT | NCBI36 |
| NG_007146.1:g.15331_15332insCAT , LRG_464:g.15331_15332insCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682632.1:n.769+42_769+43insCAT (ERCC5) | ||
| ENST00000682869.1:n.1177+42_1177+43insCAT (ERCC5) | ||
| ENST00000683246.1:n.1305+42_1305+43insCAT (ERCC5) | ||
| ENST00000684184.1:n.1174+42_1174+43insCAT (ERCC5) | ||
| ENST00000639132.1:c.1203+42_1203+43insCAT (BIVM-ERCC5) | ENSP00000492684.1:n.1203+42_1203+43insCAT | |
| ENST00000639435.1:c.1890+42_1890+43insCAT (BIVM-ERCC5) | ENSP00000491742.1:n.1890+42_1890+43insCAT | |
| ENST00000651002.1:c.*289+42_*289+43insCAT (ERCC5) | ENSP00000498809.1:n.*289+42_*289+43insCAT | |
| ENST00000651055.1:n.657+42_657+43insCAT (ERCC5) | ||
| ENST00000651281.1:n.896+42_896+43insCAT (ERCC5) | ||
| ENST00000651470.1:c.528+42_528+43insCAT (ERCC5) | ENSP00000498701.1:n.528+42_528+43insCAT | |
| ENST00000652225.2:c.528+42_528+43insCAT (ERCC5) MANE Select | ENSP00000498881.2:n.528+42_528+43insCAT | |
| ENST00000652613.1:c.24+42_24+43insCAT (ERCC5) | ENSP00000498357.1:n.24+42_24+43insCAT | |
| ENST00000355739.8:c.528+42_528+43insCAT (ERCC5) | ENSP00000347978.4:n.528+42_528+43insCAT | |
| ENST00000535557.5:c.528+42_528+43insCAT (ERCC5) | ENSP00000442117.1:n.528+42_528+43insCAT | |
| ENST00000602836.1:c.1804+42_1804+43insCAT (BIVM-ERCC5) | ||
| ENST00000610537.4:c.528+42_528+43insCAT (ERCC5) | ENSP00000478667.1:n.528+42_528+43insCAT | |
| NM_000123.3:c.528+42_528+43insCAT , LRG_464t1:c.528+42_528+43insCAT (ERCC5) | NP_000114.2:n.528+42_528+43insCAT | |
| NM_001204425.1:c.1890+42_1890+43insCAT (BIVM-ERCC5) | NP_001191354.1:n.1890+42_1890+43insCAT | |
| NM_000123.4:c.528+42_528+43insCAT (ERCC5) MANE Select | NP_000114.3:n.528+42_528+43insCAT | |
| NM_001204425.2:c.1890+42_1890+43insCAT (BIVM-ERCC5) | NP_001191354.2:n.1890+42_1890+43insCAT |