Canonical Allele Identifier: CA2115203157

Gene: BIVM-ERCC5 ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845834_102845835delinsCG , CM000675.2:g.102845834_102845835delinsCG	GRCh38
NC_000013.10:g.103498184_103498185delinsCG , CM000675.1:g.103498184_103498185delinsCG	GRCh37
NC_000013.9:g.102296185_102296186delinsCG	NCBI36
NG_007146.1:g.5011_5012delinsCG , LRG_464:g.5011_5012delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7923_363-7922delinsCG (BIVM-ERCC5)
ENST00000639118.1:c.363-3284_363-3283delinsCG (BIVM-ERCC5)
ENST00000639132.1:c.763+6031_763+6032delinsCG (BIVM-ERCC5)	ENSP00000492684.1:n.763+6031_763+6032delinsCG
ENST00000639435.1:c.1450+6031_1450+6032delinsCG (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6031_1450+6032delinsCG
ENST00000651002.1:c.-433_-432delinsCG (ERCC5)	ENSP00000498809.1:n.-433_-432delinsCG
ENST00000355739.8:c.-433_-432delinsCG (ERCC5)	ENSP00000347978.4:n.-433_-432delinsCG
ENST00000602836.1:c.1364+6031_1364+6032delinsCG (BIVM-ERCC5)
NM_001204425.1:c.1450+6031_1450+6032delinsCG (BIVM-ERCC5)	NP_001191354.1:n.1450+6031_1450+6032delinsCG
NM_001204425.2:c.1450+6031_1450+6032delinsCG (BIVM-ERCC5)	NP_001191354.2:n.1450+6031_1450+6032delinsCG