Canonical Allele Identifier: CA986568452

Gene: BIRC5

Linked Data

• gnomAD v3: 17-78224077-TGGTAGATGCA-T
• gnomAD v4: 17-78224077-TGGTAGATGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224078_78224087del , CM000679.2:g.78224078_78224087del	GRCh38
NC_000017.10:g.76220159_76220168del , CM000679.1:g.76220159_76220168del	GRCh37
NC_000017.9:g.73731754_73731763del	NCBI36
NG_029069.1:g.14883_14892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*524_*533del MANE Select	ENSP00000324180.4:n.*524_*533del
ENST00000301633.8:c.*524_*533del	ENSP00000301633.3:n.*524_*533del
ENST00000350051.7:c.*524_*533del	ENSP00000324180.4:n.*524_*533del
ENST00000374948.6:c.*421_*430del	ENSP00000364086.1:n.*421_*430del
NM_001012270.1:c.*421_*430del	NP_001012270.1:n.*421_*430del
NM_001012271.1:c.*524_*533del	NP_001012271.1:n.*524_*533del
NM_001168.2:c.*524_*533del	NP_001159.2:n.*524_*533del
XR_243654.3:n.1155_1164del
XR_934452.1:n.1224_1233del
XR_243654.5:n.1155_1164del
XR_934452.3:n.1224_1233del
NM_001168.3:c.*524_*533del MANE Select	NP_001159.2:n.*524_*533del
NM_001012270.2:c.*421_*430del	NP_001012270.1:n.*421_*430del
NM_001012271.2:c.*524_*533del	NP_001012271.1:n.*524_*533del