Canonical Allele Identifier: CA2800408882

Gene: BIVM-ERCC5 ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845847_102845852del , CM000675.2:g.102845847_102845852del	GRCh38
NC_000013.10:g.103498197_103498202del , CM000675.1:g.103498197_103498202del	GRCh37
NC_000013.9:g.102296198_102296203del	NCBI36
NG_007146.1:g.5024_5029del , LRG_464:g.5024_5029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7910_363-7905del (BIVM-ERCC5)
ENST00000639118.1:c.363-3271_363-3266del (BIVM-ERCC5)
ENST00000639132.1:c.763+6044_763+6049del (BIVM-ERCC5)	ENSP00000492684.1:n.763+6044_763+6049del
ENST00000639435.1:c.1450+6044_1450+6049del (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6044_1450+6049del
ENST00000651002.1:c.-420_-415del (ERCC5)	ENSP00000498809.1:n.-420_-415del
ENST00000355739.8:c.-420_-415del (ERCC5)	ENSP00000347978.4:n.-420_-415del
ENST00000535557.5:c.-420_-415del (ERCC5)	ENSP00000442117.1:n.-420_-415del
ENST00000602836.1:c.1364+6044_1364+6049del (BIVM-ERCC5)
NM_000123.3:c.-420_-415del , LRG_464t1:c.-420_-415del (ERCC5)	NP_000114.2:n.-420_-415del
NM_001204425.1:c.1450+6044_1450+6049del (BIVM-ERCC5)	NP_001191354.1:n.1450+6044_1450+6049del
NM_001204425.2:c.1450+6044_1450+6049del (BIVM-ERCC5)	NP_001191354.2:n.1450+6044_1450+6049del