Canonical Allele Identifier: CA2640134768

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224054-GTGTTTTTTTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224056_78224066del , CM000679.2:g.78224056_78224066del	GRCh38
NC_000017.10:g.76220137_76220147del , CM000679.1:g.76220137_76220147del	GRCh37
NC_000017.9:g.73731732_73731742del	NCBI36
NG_029069.1:g.14861_14871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*502_*512del MANE Select	ENSP00000324180.4:n.*502_*512del
ENST00000301633.8:c.*502_*512del	ENSP00000301633.3:n.*502_*512del
ENST00000350051.7:c.*502_*512del	ENSP00000324180.4:n.*502_*512del
ENST00000374948.6:c.*399_*409del	ENSP00000364086.1:n.*399_*409del
NM_001012270.1:c.*399_*409del	NP_001012270.1:n.*399_*409del
NM_001012271.1:c.*502_*512del	NP_001012271.1:n.*502_*512del
NM_001168.2:c.*502_*512del	NP_001159.2:n.*502_*512del
XR_243654.3:n.1133_1143del
XR_934452.1:n.1202_1212del
XR_243654.5:n.1133_1143del
XR_934452.3:n.1202_1212del
NM_001168.3:c.*502_*512del MANE Select	NP_001159.2:n.*502_*512del
NM_001012270.2:c.*399_*409del	NP_001012270.1:n.*399_*409del
NM_001012271.2:c.*502_*512del	NP_001012271.1:n.*502_*512del