Linked Data
dbSNP Id:
rs1355119704
gnomAD v2:
13-103497986-TCCA-T
gnomAD v3:
13-102845636-TCCA-T
gnomAD v4:
13-102845636-TCCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102845640_102845642del , CM000675.2:g.102845640_102845642del | GRCh38 |
| NC_000013.10:g.103497990_103497992del , CM000675.1:g.103497990_103497992del | GRCh37 |
| NC_000013.9:g.102295991_102295993del | NCBI36 |
| NG_007146.1:g.4817_4819del , LRG_464:g.4817_4819del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638434.1:c.363-8117_363-8115del (BIVM-ERCC5) | ||
| ENST00000639118.1:c.363-3478_363-3476del (BIVM-ERCC5) | ||
| ENST00000639132.1:c.763+5837_763+5839del (BIVM-ERCC5) | ENSP00000492684.1:n.763+5837_763+5839del | |
| ENST00000639435.1:c.1450+5837_1450+5839del (BIVM-ERCC5) | ENSP00000491742.1:n.1450+5837_1450+5839del | |
| ENST00000355739.8:c.-627_-625del (ERCC5) | ENSP00000347978.4:n.-627_-625del | |
| ENST00000602836.1:c.1364+5837_1364+5839del (BIVM-ERCC5) | ||
| NM_001204425.1:c.1450+5837_1450+5839del (BIVM-ERCC5) | NP_001191354.1:n.1450+5837_1450+5839del | |
| NM_001204425.2:c.1450+5837_1450+5839del (BIVM-ERCC5) | NP_001191354.2:n.1450+5837_1450+5839del |