Canonical Allele Identifier: CA2800409283

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102855968_102855969del , CM000675.2:g.102855968_102855969del	GRCh38
NC_000013.10:g.103508318_103508319del , CM000675.1:g.103508318_103508319del	GRCh37
NC_000013.9:g.102306319_102306320del	NCBI36
NG_007146.1:g.15145_15146del , LRG_464:g.15145_15146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.709-84_709-83del (ERCC5)
ENST00000682869.1:n.1117-84_1117-83del (ERCC5)
ENST00000683246.1:n.1245-84_1245-83del (ERCC5)
ENST00000684184.1:n.1114-84_1114-83del (ERCC5)
ENST00000638434.1:c.566-84_566-83del (BIVM-ERCC5)
ENST00000639132.1:c.1143-84_1143-83del (BIVM-ERCC5)	ENSP00000492684.1:n.1143-84_1143-83del
ENST00000639435.1:c.1830-84_1830-83del (BIVM-ERCC5)	ENSP00000491742.1:n.1830-84_1830-83del
ENST00000651002.1:c.*229-84_*229-83del (ERCC5)	ENSP00000498809.1:n.*229-84_*229-83del
ENST00000651055.1:n.597-84_597-83del (ERCC5)
ENST00000651281.1:n.836-84_836-83del (ERCC5)
ENST00000651470.1:c.468-84_468-83del (ERCC5)	ENSP00000498701.1:n.468-84_468-83del
ENST00000652225.2:c.468-84_468-83del (ERCC5) MANE Select	ENSP00000498881.2:n.468-84_468-83del
ENST00000652613.1:c.-37-84_-37-83del (ERCC5)	ENSP00000498357.1:n.-37-84_-37-83del
ENST00000355739.8:c.468-84_468-83del (ERCC5)	ENSP00000347978.4:n.468-84_468-83del
ENST00000535557.5:c.468-84_468-83del (ERCC5)	ENSP00000442117.1:n.468-84_468-83del
ENST00000602836.1:c.1744-84_1744-83del (BIVM-ERCC5)
ENST00000610537.4:c.468-84_468-83del (ERCC5)	ENSP00000478667.1:n.468-84_468-83del
NM_000123.3:c.468-84_468-83del , LRG_464t1:c.468-84_468-83del (ERCC5)	NP_000114.2:n.468-84_468-83del
NM_001204425.1:c.1830-84_1830-83del (BIVM-ERCC5)	NP_001191354.1:n.1830-84_1830-83del
NM_000123.4:c.468-84_468-83del (ERCC5) MANE Select	NP_000114.3:n.468-84_468-83del
NM_001204425.2:c.1830-84_1830-83del (BIVM-ERCC5)	NP_001191354.2:n.1830-84_1830-83del