Canonical Allele Identifier: CA2115203161

Gene: BIVM-ERCC5 ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845841_102845842delinsAT , CM000675.2:g.102845841_102845842delinsAT	GRCh38
NC_000013.10:g.103498191_103498192delinsAT , CM000675.1:g.103498191_103498192delinsAT	GRCh37
NC_000013.9:g.102296192_102296193delinsAT	NCBI36
NG_007146.1:g.5018_5019delinsAT , LRG_464:g.5018_5019delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7916_363-7915delinsAT (BIVM-ERCC5)
ENST00000639118.1:c.363-3277_363-3276delinsAT (BIVM-ERCC5)
ENST00000639132.1:c.763+6038_763+6039delinsAT (BIVM-ERCC5)	ENSP00000492684.1:n.763+6038_763+6039delinsAT
ENST00000639435.1:c.1450+6038_1450+6039delinsAT (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6038_1450+6039delinsAT
ENST00000651002.1:c.-426_-425delinsAT (ERCC5)	ENSP00000498809.1:n.-426_-425delinsAT
ENST00000355739.8:c.-426_-425delinsAT (ERCC5)	ENSP00000347978.4:n.-426_-425delinsAT
ENST00000535557.5:c.-426_-425delinsAT (ERCC5)	ENSP00000442117.1:n.-426_-425delinsAT
ENST00000602836.1:c.1364+6038_1364+6039delinsAT (BIVM-ERCC5)
NM_000123.3:c.-426_-425delinsAT , LRG_464t1:c.-426_-425delinsAT (ERCC5)	NP_000114.2:n.-426_-425delinsAT
NM_001204425.1:c.1450+6038_1450+6039delinsAT (BIVM-ERCC5)	NP_001191354.1:n.1450+6038_1450+6039delinsAT
NM_001204425.2:c.1450+6038_1450+6039delinsAT (BIVM-ERCC5)	NP_001191354.2:n.1450+6038_1450+6039delinsAT