Canonical Allele Identifier: CA2115215255

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1883086975
• gnomAD v4: 13-102873108-G-GTTAGTACTTTCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873113_102873125dup , CM000675.2:g.102873113_102873125dup	GRCh38
NC_000013.10:g.103525463_103525475dup , CM000675.1:g.103525463_103525475dup	GRCh37
NC_000013.9:g.102323464_102323476dup	NCBI36
NG_007146.1:g.32290_32302dup , LRG_464:g.32290_32302dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.3835_3847dup (ERCC5)
ENST00000682869.1:n.3529-146_3529-134dup (ERCC5)
ENST00000683246.1:n.4371_4383dup (ERCC5)
ENST00000683642.1:n.2964_2976dup (ERCC5)
ENST00000639132.1:c.3555-146_3555-134dup (BIVM-ERCC5)	ENSP00000492684.1:n.3555-146_3555-134dup
ENST00000639435.1:c.4242-146_4242-134dup (BIVM-ERCC5)	ENSP00000491742.1:n.4242-146_4242-134dup
ENST00000651002.1:c.*2641-146_*2641-134dup (ERCC5)	ENSP00000498809.1:n.*2641-146_*2641-134dup
ENST00000651055.1:n.3009-148_3009-136dup (ERCC5)
ENST00000651281.1:n.3248-146_3248-134dup (ERCC5)
ENST00000651387.1:n.2364-146_2364-134dup (ERCC5)
ENST00000651470.1:c.*52-146_*52-134dup (ERCC5)	ENSP00000498701.1:n.*52-146_*52-134dup
ENST00000652225.2:c.2880-146_2880-134dup (ERCC5) MANE Select	ENSP00000498881.2:n.2880-146_2880-134dup
ENST00000652613.1:c.2376-146_2376-134dup (ERCC5)	ENSP00000498357.1:n.2376-146_2376-134dup
ENST00000355739.8:c.2880-146_2880-134dup (ERCC5)	ENSP00000347978.4:n.2880-146_2880-134dup
ENST00000375954.1:c.579-146_579-134dup (ERCC5)	ENSP00000365121.1:n.579-146_579-134dup
ENST00000610537.4:c.2877-146_2877-134dup (ERCC5)	ENSP00000478667.1:n.2877-146_2877-134dup
NM_000123.3:c.2880-146_2880-134dup , LRG_464t1:c.2880-146_2880-134dup (ERCC5)	NP_000114.2:n.2880-146_2880-134dup
NM_001204425.1:c.4242-146_4242-134dup (BIVM-ERCC5)	NP_001191354.1:n.4242-146_4242-134dup
NM_000123.4:c.2880-146_2880-134dup (ERCC5) MANE Select	NP_000114.3:n.2880-146_2880-134dup
NM_001204425.2:c.4242-146_4242-134dup (BIVM-ERCC5)	NP_001191354.2:n.4242-146_4242-134dup