Canonical Allele Identifier: CA2640134703

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224039-AGTTTTTTTGTTGTTGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224040_78224056del , CM000679.2:g.78224040_78224056del	GRCh38
NC_000017.10:g.76220121_76220137del , CM000679.1:g.76220121_76220137del	GRCh37
NC_000017.9:g.73731716_73731732del	NCBI36
NG_029069.1:g.14845_14861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*486_*502del MANE Select	ENSP00000324180.4:n.*486_*502del
ENST00000301633.8:c.*486_*502del	ENSP00000301633.3:n.*486_*502del
ENST00000350051.7:c.*486_*502del	ENSP00000324180.4:n.*486_*502del
ENST00000374948.6:c.*383_*399del	ENSP00000364086.1:n.*383_*399del
NM_001012270.1:c.*383_*399del	NP_001012270.1:n.*383_*399del
NM_001012271.1:c.*486_*502del	NP_001012271.1:n.*486_*502del
NM_001168.2:c.*486_*502del	NP_001159.2:n.*486_*502del
XR_243654.3:n.1117_1133del
XR_934452.1:n.1186_1202del
XR_243654.5:n.1117_1133del
XR_934452.3:n.1186_1202del
NM_001168.3:c.*486_*502del MANE Select	NP_001159.2:n.*486_*502del
NM_001012270.2:c.*383_*399del	NP_001012270.1:n.*383_*399del
NM_001012271.2:c.*486_*502del	NP_001012271.1:n.*486_*502del