Linked Data
ClinVar Variation Id:
373982
ClinVar RCV Id:
RCV000415130
dbSNP Id:
rs1057518813
gnomAD v4:
13-102873304-ATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102873308_102873309del , CM000675.2:g.102873308_102873309del | GRCh38 |
| NC_000013.10:g.103525658_103525659del , CM000675.1:g.103525658_103525659del | GRCh37 |
| NC_000013.9:g.102323659_102323660del | NCBI36 |
| NG_007146.1:g.32485_32486del , LRG_464:g.32485_32486del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682632.1:n.4030_4031del (ERCC5) | ||
| ENST00000682869.1:n.3578_3579del (ERCC5) | ||
| ENST00000683246.1:n.4566_4567del (ERCC5) | ||
| ENST00000683642.1:n.3159_3160del (ERCC5) | ||
| ENST00000639132.1:c.3604_3605del (BIVM-ERCC5) | ENSP00000492684.1:p.Leu1202ValfsTer17 | |
| ENST00000639435.1:c.4291_4292del (BIVM-ERCC5) | ENSP00000491742.1:p.Leu1431ValfsTer17 | |
| ENST00000651002.1:c.*2690_*2691del (ERCC5) | ENSP00000498809.1:n.*2690_*2691del | |
| ENST00000651055.1:n.3056_3057del (ERCC5) | ||
| ENST00000651281.1:n.3297_3298del (ERCC5) | ||
| ENST00000651387.1:n.2413_2414del (ERCC5) | ||
| ENST00000651470.1:c.*101_*102del (ERCC5) | ENSP00000498701.1:n.*101_*102del | |
| ENST00000652225.2:c.2929_2930del (ERCC5) MANE Select | ENSP00000498881.2:p.Leu977ValfsTer17 | |
| ENST00000652613.1:c.2425_2426del (ERCC5) | ENSP00000498357.1:p.Leu809ValfsTer17 | |
| ENST00000355739.8:c.2929_2930del (ERCC5) | ENSP00000347978.4:p.Leu977ValfsTer17 | |
| ENST00000375954.1:c.628_629del (ERCC5) | ENSP00000365121.1:p.Leu210ValfsTer17 | |
| ENST00000610537.4:c.2926_2927del (ERCC5) | ENSP00000478667.1:p.Leu976ValfsTer17 | |
| NM_000123.3:c.2929_2930del , LRG_464t1:c.2929_2930del (ERCC5) | NP_000114.2:p.Leu977ValfsTer17 | |
| NM_001204425.1:c.4291_4292del (BIVM-ERCC5) | NP_001191354.1:p.Leu1431ValfsTer17 | |
| NM_000123.4:c.2929_2930del (ERCC5) MANE Select | NP_000114.3:p.Leu977ValfsTer17 | |
| NM_001204425.2:c.4291_4292del (BIVM-ERCC5) | NP_001191354.2:p.Leu1431ValfsTer17 |