Canonical Allele Identifier: CA2695218864

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 3068061
• ClinVar RCV Id: RCV003991741

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873320_102873323del , CM000675.2:g.102873320_102873323del	GRCh38
NC_000013.10:g.103525670_103525673del , CM000675.1:g.103525670_103525673del	GRCh37
NC_000013.9:g.102323671_102323674del	NCBI36
NG_007146.1:g.32497_32500del , LRG_464:g.32497_32500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4042_4045del (ERCC5)
ENST00000682869.1:n.3590_3593del (ERCC5)
ENST00000683246.1:n.4578_4581del (ERCC5)
ENST00000683642.1:n.3171_3174del (ERCC5)
ENST00000639132.1:c.3616_3619del (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1206SerfsTer18
ENST00000639435.1:c.4303_4306del (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1435SerfsTer18
ENST00000651002.1:c.*2702_*2705del (ERCC5)	ENSP00000498809.1:n.*2702_*2705del
ENST00000651055.1:n.3068_3071del (ERCC5)
ENST00000651281.1:n.3309_3312del (ERCC5)
ENST00000651387.1:n.2425_2428del (ERCC5)
ENST00000651470.1:c.*113_*116del (ERCC5)	ENSP00000498701.1:n.*113_*116del
ENST00000652225.2:c.2941_2944del (ERCC5) MANE Select	ENSP00000498881.2:p.Leu981SerfsTer18
ENST00000652613.1:c.2437_2440del (ERCC5)	ENSP00000498357.1:p.Leu813SerfsTer18
ENST00000355739.8:c.2941_2944del (ERCC5)	ENSP00000347978.4:p.Leu981SerfsTer18
ENST00000375954.1:c.640_643del (ERCC5)	ENSP00000365121.1:p.Leu214SerfsTer18
ENST00000610537.4:c.2938_2941del (ERCC5)	ENSP00000478667.1:p.Leu980SerfsTer18
NM_000123.3:c.2941_2944del , LRG_464t1:c.2941_2944del (ERCC5)	NP_000114.2:p.Leu981SerfsTer18
NM_001204425.1:c.4303_4306del (BIVM-ERCC5)	NP_001191354.1:p.Leu1435SerfsTer18
NM_000123.4:c.2941_2944del (ERCC5) MANE Select	NP_000114.3:p.Leu981SerfsTer18
NM_001204425.2:c.4303_4306del (BIVM-ERCC5)	NP_001191354.2:p.Leu1435SerfsTer18