Canonical Allele Identifier: CA2115203111

Gene: BIVM-ERCC5 ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845774_102845775delinsTA , CM000675.2:g.102845774_102845775delinsTA	GRCh38
NC_000013.10:g.103498124_103498125delinsTA , CM000675.1:g.103498124_103498125delinsTA	GRCh37
NC_000013.9:g.102296125_102296126delinsTA	NCBI36
NG_007146.1:g.4951_4952delinsTA , LRG_464:g.4951_4952delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7983_363-7982delinsTA (BIVM-ERCC5)
ENST00000639118.1:c.363-3344_363-3343delinsTA (BIVM-ERCC5)
ENST00000639132.1:c.763+5971_763+5972delinsTA (BIVM-ERCC5)	ENSP00000492684.1:n.763+5971_763+5972delinsTA
ENST00000639435.1:c.1450+5971_1450+5972delinsTA (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5971_1450+5972delinsTA
ENST00000355739.8:c.-493_-492delinsTA (ERCC5)	ENSP00000347978.4:n.-493_-492delinsTA
ENST00000602836.1:c.1364+5971_1364+5972delinsTA (BIVM-ERCC5)
NM_001204425.1:c.1450+5971_1450+5972delinsTA (BIVM-ERCC5)	NP_001191354.1:n.1450+5971_1450+5972delinsTA
NM_001204425.2:c.1450+5971_1450+5972delinsTA (BIVM-ERCC5)	NP_001191354.2:n.1450+5971_1450+5972delinsTA