Canonical Allele Identifier: CA2623612645

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102873306-CTCTGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873309_102873314del , CM000675.2:g.102873309_102873314del	GRCh38
NC_000013.10:g.103525659_103525664del , CM000675.1:g.103525659_103525664del	GRCh37
NC_000013.9:g.102323660_102323665del	NCBI36
NG_007146.1:g.32486_32491del , LRG_464:g.32486_32491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4031_4036del (ERCC5)
ENST00000682869.1:n.3579_3584del (ERCC5)
ENST00000683246.1:n.4567_4572del (ERCC5)
ENST00000683642.1:n.3160_3165del (ERCC5)
ENST00000639132.1:c.3605_3610del (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1202_Phe1203del
ENST00000639435.1:c.4292_4297del (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1431_Phe1432del
ENST00000651002.1:c.*2691_*2696del (ERCC5)	ENSP00000498809.1:n.*2691_*2696del
ENST00000651055.1:n.3057_3062del (ERCC5)
ENST00000651281.1:n.3298_3303del (ERCC5)
ENST00000651387.1:n.2414_2419del (ERCC5)
ENST00000651470.1:c.*102_*107del (ERCC5)	ENSP00000498701.1:n.*102_*107del
ENST00000652225.2:c.2930_2935del (ERCC5) MANE Select	ENSP00000498881.2:p.Leu977_Phe978del
ENST00000652613.1:c.2426_2431del (ERCC5)	ENSP00000498357.1:p.Leu809_Phe810del
ENST00000355739.8:c.2930_2935del (ERCC5)	ENSP00000347978.4:p.Leu977_Phe978del
ENST00000375954.1:c.629_634del (ERCC5)	ENSP00000365121.1:p.Leu210_Phe211del
ENST00000610537.4:c.2927_2932del (ERCC5)	ENSP00000478667.1:p.Leu976_Phe977del
NM_000123.3:c.2930_2935del , LRG_464t1:c.2930_2935del (ERCC5)	NP_000114.2:p.Leu977_Phe978del
NM_001204425.1:c.4292_4297del (BIVM-ERCC5)	NP_001191354.1:p.Leu1431_Phe1432del
NM_000123.4:c.2930_2935del (ERCC5) MANE Select	NP_000114.3:p.Leu977_Phe978del
NM_001204425.2:c.4292_4297del (BIVM-ERCC5)	NP_001191354.2:p.Leu1431_Phe1432del