Canonical Allele Identifier: CA2623617244

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102856247-C-CATAATGGCAAATTCCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856250_102856251insATGGCAAATTCCATATA , CM000675.2:g.102856250_102856251insATGGCAAATTCCATATA	GRCh38
NC_000013.10:g.103508600_103508601insATGGCAAATTCCATATA , CM000675.1:g.103508600_103508601insATGGCAAATTCCATATA	GRCh37
NC_000013.9:g.102306601_102306602insATGGCAAATTCCATATA	NCBI36
NG_007146.1:g.15427_15428insATGGCAAATTCCATATA , LRG_464:g.15427_15428insATGGCAAATTCCATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.769+138_769+139insATGGCAAATTCCATATA (ERCC5)
ENST00000682869.1:n.1177+138_1177+139insATGGCAAATTCCATATA (ERCC5)
ENST00000683246.1:n.1305+138_1305+139insATGGCAAATTCCATATA (ERCC5)
ENST00000684184.1:n.1174+138_1174+139insATGGCAAATTCCATATA (ERCC5)
ENST00000639132.1:c.1203+138_1203+139insATGGCAAATTCCATATA (BIVM-ERCC5)	ENSP00000492684.1:n.1203+138_1203+139insATGGCAAATTCCATATA
ENST00000639435.1:c.1890+138_1890+139insATGGCAAATTCCATATA (BIVM-ERCC5)	ENSP00000491742.1:n.1890+138_1890+139insATGGCAAATTCCATATA
ENST00000651002.1:c.*289+138_*289+139insATGGCAAATTCCATATA (ERCC5)	ENSP00000498809.1:n.*289+138_*289+139insATGGCAAATTCCATATA
ENST00000651055.1:n.657+138_657+139insATGGCAAATTCCATATA (ERCC5)
ENST00000651281.1:n.896+138_896+139insATGGCAAATTCCATATA (ERCC5)
ENST00000651470.1:c.528+138_528+139insATGGCAAATTCCATATA (ERCC5)	ENSP00000498701.1:n.528+138_528+139insATGGCAAATTCCATATA
ENST00000652225.2:c.528+138_528+139insATGGCAAATTCCATATA (ERCC5) MANE Select	ENSP00000498881.2:n.528+138_528+139insATGGCAAATTCCATATA
ENST00000652613.1:c.24+138_24+139insATGGCAAATTCCATATA (ERCC5)	ENSP00000498357.1:n.24+138_24+139insATGGCAAATTCCATATA
ENST00000355739.8:c.528+138_528+139insATGGCAAATTCCATATA (ERCC5)	ENSP00000347978.4:n.528+138_528+139insATGGCAAATTCCATATA
ENST00000535557.5:c.528+138_528+139insATGGCAAATTCCATATA (ERCC5)	ENSP00000442117.1:n.528+138_528+139insATGGCAAATTCCATATA
ENST00000602836.1:c.1804+138_1804+139insATGGCAAATTCCATATA (BIVM-ERCC5)
ENST00000610537.4:c.528+138_528+139insATGGCAAATTCCATATA (ERCC5)	ENSP00000478667.1:n.528+138_528+139insATGGCAAATTCCATATA
NM_000123.3:c.528+138_528+139insATGGCAAATTCCATATA , LRG_464t1:c.528+138_528+139insATGGCAAATTCCATATA (ERCC5)	NP_000114.2:n.528+138_528+139insATGGCAAATTCCATATA
NM_001204425.1:c.1890+138_1890+139insATGGCAAATTCCATATA (BIVM-ERCC5)	NP_001191354.1:n.1890+138_1890+139insATGGCAAATTCCATATA
NM_000123.4:c.528+138_528+139insATGGCAAATTCCATATA (ERCC5) MANE Select	NP_000114.3:n.528+138_528+139insATGGCAAATTCCATATA
NM_001204425.2:c.1890+138_1890+139insATGGCAAATTCCATATA (BIVM-ERCC5)	NP_001191354.2:n.1890+138_1890+139insATGGCAAATTCCATATA