Canonical Allele Identifier: CA914210988

Gene: BIRC5

Linked Data

• gnomAD v2: 17-76220121-G-GTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224047_78224048insTTTTTTTT , CM000679.2:g.78224047_78224048insTTTTTTTT	GRCh38
NC_000017.10:g.76220128_76220129insTTTTTTTT , CM000679.1:g.76220128_76220129insTTTTTTTT	GRCh37
NC_000017.9:g.73731723_73731724insTTTTTTTT	NCBI36
NG_029069.1:g.14852_14853insTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*493_*494insTTTTTTTT MANE Select	ENSP00000324180.4:n.*493_*494insTTTTTTTT
ENST00000301633.8:c.*493_*494insTTTTTTTT	ENSP00000301633.3:n.*493_*494insTTTTTTTT
ENST00000350051.7:c.*493_*494insTTTTTTTT	ENSP00000324180.4:n.*493_*494insTTTTTTTT
ENST00000374948.6:c.*390_*391insTTTTTTTT	ENSP00000364086.1:n.*390_*391insTTTTTTTT
NM_001012270.1:c.*390_*391insTTTTTTTT	NP_001012270.1:n.*390_*391insTTTTTTTT
NM_001012271.1:c.*493_*494insTTTTTTTT	NP_001012271.1:n.*493_*494insTTTTTTTT
NM_001168.2:c.*493_*494insTTTTTTTT	NP_001159.2:n.*493_*494insTTTTTTTT
XR_243654.3:n.1124_1125insTTTTTTTT
XR_934452.1:n.1193_1194insTTTTTTTT
XR_243654.5:n.1124_1125insTTTTTTTT
XR_934452.3:n.1193_1194insTTTTTTTT
NM_001168.3:c.*493_*494insTTTTTTTT MANE Select	NP_001159.2:n.*493_*494insTTTTTTTT
NM_001012270.2:c.*390_*391insTTTTTTTT	NP_001012270.1:n.*390_*391insTTTTTTTT
NM_001012271.2:c.*493_*494insTTTTTTTT	NP_001012271.1:n.*493_*494insTTTTTTTT