Canonical Allele Identifier: CA986568402

Gene: BIRC5

Linked Data

• dbSNP Id: rs2076533774
• gnomAD v3: 17-78224055-TGTTTTTTTG-T
• gnomAD v4: 17-78224055-TGTTTTTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224056_78224064del , CM000679.2:g.78224056_78224064del	GRCh38
NC_000017.10:g.76220137_76220145del , CM000679.1:g.76220137_76220145del	GRCh37
NC_000017.9:g.73731732_73731740del	NCBI36
NG_029069.1:g.14861_14869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*502_*510del MANE Select	ENSP00000324180.4:n.*502_*510del
ENST00000301633.8:c.*502_*510del	ENSP00000301633.3:n.*502_*510del
ENST00000350051.7:c.*502_*510del	ENSP00000324180.4:n.*502_*510del
ENST00000374948.6:c.*399_*407del	ENSP00000364086.1:n.*399_*407del
NM_001012270.1:c.*399_*407del	NP_001012270.1:n.*399_*407del
NM_001012271.1:c.*502_*510del	NP_001012271.1:n.*502_*510del
NM_001168.2:c.*502_*510del	NP_001159.2:n.*502_*510del
XR_243654.3:n.1133_1141del
XR_934452.1:n.1202_1210del
XR_243654.5:n.1133_1141del
XR_934452.3:n.1202_1210del
NM_001168.3:c.*502_*510del MANE Select	NP_001159.2:n.*502_*510del
NM_001012270.2:c.*399_*407del	NP_001012270.1:n.*399_*407del
NM_001012271.2:c.*502_*510del	NP_001012271.1:n.*502_*510del