Canonical Allele Identifier: CA2640139280

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223658-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223661del , CM000679.2:g.78223661del	GRCh38
NC_000017.10:g.76219742del , CM000679.1:g.76219742del	GRCh37
NC_000017.9:g.73731337del	NCBI36
NG_029069.1:g.14466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*107del MANE Select	ENSP00000324180.4:n.*107del
ENST00000301633.8:c.*107del	ENSP00000301633.3:n.*107del
ENST00000350051.7:c.*107del	ENSP00000324180.4:n.*107del
ENST00000374948.6:c.*4del	ENSP00000364086.1:n.*4del
ENST00000589892.1:n.552del
NM_001012270.1:c.*4del	NP_001012270.1:n.*4del
NM_001012271.1:c.*107del	NP_001012271.1:n.*107del
NM_001168.2:c.*107del	NP_001159.2:n.*107del
XR_243654.3:n.738del
XR_934452.1:n.807del
XR_243654.5:n.738del
XR_934452.3:n.807del
NM_001168.3:c.*107del MANE Select	NP_001159.2:n.*107del
NM_001012270.2:c.*4del	NP_001012270.1:n.*4del
NM_001012271.2:c.*107del	NP_001012271.1:n.*107del