Canonical Allele Identifier: CA2640134060

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223774-TTCTCTCTCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223782_78223791del , CM000679.2:g.78223782_78223791del	GRCh38
NC_000017.10:g.76219863_76219872del , CM000679.1:g.76219863_76219872del	GRCh37
NC_000017.9:g.73731458_73731467del	NCBI36
NG_029069.1:g.14587_14596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*228_*237del MANE Select	ENSP00000324180.4:n.*228_*237del
ENST00000301633.8:c.*228_*237del	ENSP00000301633.3:n.*228_*237del
ENST00000350051.7:c.*228_*237del	ENSP00000324180.4:n.*228_*237del
ENST00000374948.6:c.*125_*134del	ENSP00000364086.1:n.*125_*134del
ENST00000589892.1:n.673_682del
NM_001012270.1:c.*125_*134del	NP_001012270.1:n.*125_*134del
NM_001012271.1:c.*228_*237del	NP_001012271.1:n.*228_*237del
NM_001168.2:c.*228_*237del	NP_001159.2:n.*228_*237del
XR_243654.3:n.859_868del
XR_934452.1:n.928_937del
XR_243654.5:n.859_868del
XR_934452.3:n.928_937del
NM_001168.3:c.*228_*237del MANE Select	NP_001159.2:n.*228_*237del
NM_001012270.2:c.*125_*134del	NP_001012270.1:n.*125_*134del
NM_001012271.2:c.*228_*237del	NP_001012271.1:n.*228_*237del