Canonical Allele Identifier: CA2115202983

Gene: BIVM-ERCC5 ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845576_102845601delinsGGACTCCAGTATGGGCGACAGCGTGA , CM000675.2:g.102845576_102845601delinsGGACTCCAGTATGGGCGACAGCGTGA	GRCh38
NC_000013.10:g.103497926_103497951delinsGGACTCCAGTATGGGCGACAGCGTGA , CM000675.1:g.103497926_103497951delinsGGACTCCAGTATGGGCGACAGCGTGA	GRCh37
NC_000013.9:g.102295927_102295952delinsGGACTCCAGTATGGGCGACAGCGTGA	NCBI36
NG_007146.1:g.4753_4778delinsGGACTCCAGTATGGGCGACAGCGTGA , LRG_464:g.4753_4778delinsGGACTCCAGTATGGGCGACAGCGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8181_363-8156delinsGGACTCCAGTATGGGCGACAGCGTGA (BIVM-ERCC5)
ENST00000639118.1:c.363-3542_363-3517delinsGGACTCCAGTATGGGCGACAGCGTGA (BIVM-ERCC5)
ENST00000639132.1:c.763+5773_763+5798delinsGGACTCCAGTATGGGCGACAGCGTGA (BIVM-ERCC5)	ENSP00000492684.1:n.763+5773_763+5798delinsGGACTCCAGTATGGGCGA...
ENST00000639435.1:c.1450+5773_1450+5798delinsGGACTCCAGTATGGGCGACAGCGTGA (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5773_1450+5798delinsGGACTCCAGTATGGGC...
ENST00000355739.8:c.-691_-666delinsGGACTCCAGTATGGGCGACAGCGTGA (ERCC5)	ENSP00000347978.4:n.-691_-666delinsGGACTCCAGTATGGGCGACAGCGTGA...
ENST00000602836.1:c.1364+5773_1364+5798delinsGGACTCCAGTATGGGCGACAGCGTGA (BIVM-ERCC5)
NM_001204425.1:c.1450+5773_1450+5798delinsGGACTCCAGTATGGGCGACAGCGTGA (BIVM-ERCC5)	NP_001191354.1:n.1450+5773_1450+5798delinsGGACTCCAGTATGGGCGAC...
NM_001204425.2:c.1450+5773_1450+5798delinsGGACTCCAGTATGGGCGACAGCGTGA (BIVM-ERCC5)	NP_001191354.2:n.1450+5773_1450+5798delinsGGACTCCAGTATGGGCGAC...