Canonical Allele Identifier: CA2640134668

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224033-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224034del , CM000679.2:g.78224034del	GRCh38
NC_000017.10:g.76220115del , CM000679.1:g.76220115del	GRCh37
NC_000017.9:g.73731710del	NCBI36
NG_029069.1:g.14839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*480del MANE Select	ENSP00000324180.4:n.*480del
ENST00000301633.8:c.*480del	ENSP00000301633.3:n.*480del
ENST00000350051.7:c.*480del	ENSP00000324180.4:n.*480del
ENST00000374948.6:c.*377del	ENSP00000364086.1:n.*377del
NM_001012270.1:c.*377del	NP_001012270.1:n.*377del
NM_001012271.1:c.*480del	NP_001012271.1:n.*480del
NM_001168.2:c.*480del	NP_001159.2:n.*480del
XR_243654.3:n.1111del
XR_934452.1:n.1180del
XR_243654.5:n.1111del
XR_934452.3:n.1180del
NM_001168.3:c.*480del MANE Select	NP_001159.2:n.*480del
NM_001012270.2:c.*377del	NP_001012270.1:n.*377del
NM_001012271.2:c.*480del	NP_001012271.1:n.*480del