Canonical Allele Identifier: CA694376387

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1283239742
• MyVariant Identifiers: chr13:g.103525590_103525591del (hg19) ; chr13:g.102873240_102873241del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873240_102873241del , CM000675.2:g.102873240_102873241del	GRCh38
NC_000013.10:g.103525590_103525591del , CM000675.1:g.103525590_103525591del	GRCh37
NC_000013.9:g.102323591_102323592del	NCBI36
NG_007146.1:g.32417_32418del , LRG_464:g.32417_32418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.3962_3963del (ERCC5)
ENST00000682869.1:n.3529-19_3529-18del (ERCC5)
ENST00000683246.1:n.4498_4499del (ERCC5)
ENST00000683642.1:n.3091_3092del (ERCC5)
ENST00000639132.1:c.3555-19_3555-18del (BIVM-ERCC5)	ENSP00000492684.1:n.3555-19_3555-18del
ENST00000639435.1:c.4242-19_4242-18del (BIVM-ERCC5)	ENSP00000491742.1:n.4242-19_4242-18del
ENST00000651002.1:c.*2641-19_*2641-18del (ERCC5)	ENSP00000498809.1:n.*2641-19_*2641-18del
ENST00000651055.1:n.3009-21_3009-20del (ERCC5)
ENST00000651281.1:n.3248-19_3248-18del (ERCC5)
ENST00000651387.1:n.2364-19_2364-18del (ERCC5)
ENST00000651470.1:c.*52-19_*52-18del (ERCC5)	ENSP00000498701.1:n.*52-19_*52-18del
ENST00000652225.2:c.2880-19_2880-18del (ERCC5) MANE Select	ENSP00000498881.2:n.2880-19_2880-18del
ENST00000652613.1:c.2376-19_2376-18del (ERCC5)	ENSP00000498357.1:n.2376-19_2376-18del
ENST00000355739.8:c.2880-19_2880-18del (ERCC5)	ENSP00000347978.4:n.2880-19_2880-18del
ENST00000375954.1:c.579-19_579-18del (ERCC5)	ENSP00000365121.1:n.579-19_579-18del
ENST00000610537.4:c.2877-19_2877-18del (ERCC5)	ENSP00000478667.1:n.2877-19_2877-18del
NM_000123.3:c.2880-19_2880-18del , LRG_464t1:c.2880-19_2880-18del (ERCC5)	NP_000114.2:n.2880-19_2880-18del
NM_001204425.1:c.4242-19_4242-18del (BIVM-ERCC5)	NP_001191354.1:n.4242-19_4242-18del
NM_000123.4:c.2880-19_2880-18del (ERCC5) MANE Select	NP_000114.3:n.2880-19_2880-18del
NM_001204425.2:c.4242-19_4242-18del (BIVM-ERCC5)	NP_001191354.2:n.4242-19_4242-18del