Canonical Allele Identifier: CA2640134723

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224046-TTGTTGTTGTGTTTTTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224048_78224065del , CM000679.2:g.78224048_78224065del	GRCh38
NC_000017.10:g.76220129_76220146del , CM000679.1:g.76220129_76220146del	GRCh37
NC_000017.9:g.73731724_73731741del	NCBI36
NG_029069.1:g.14853_14870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*494_*511del MANE Select	ENSP00000324180.4:n.*494_*511del
ENST00000301633.8:c.*494_*511del	ENSP00000301633.3:n.*494_*511del
ENST00000350051.7:c.*494_*511del	ENSP00000324180.4:n.*494_*511del
ENST00000374948.6:c.*391_*408del	ENSP00000364086.1:n.*391_*408del
NM_001012270.1:c.*391_*408del	NP_001012270.1:n.*391_*408del
NM_001012271.1:c.*494_*511del	NP_001012271.1:n.*494_*511del
NM_001168.2:c.*494_*511del	NP_001159.2:n.*494_*511del
XR_243654.3:n.1125_1142del
XR_934452.1:n.1194_1211del
XR_243654.5:n.1125_1142del
XR_934452.3:n.1194_1211del
NM_001168.3:c.*494_*511del MANE Select	NP_001159.2:n.*494_*511del
NM_001012270.2:c.*391_*408del	NP_001012270.1:n.*391_*408del
NM_001012271.2:c.*494_*511del	NP_001012271.1:n.*494_*511del