Canonical Allele Identifier: CA2640134821

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224076-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224077_78224078del , CM000679.2:g.78224077_78224078del	GRCh38
NC_000017.10:g.76220158_76220159del , CM000679.1:g.76220158_76220159del	GRCh37
NC_000017.9:g.73731753_73731754del	NCBI36
NG_029069.1:g.14882_14883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*523_*524del MANE Select	ENSP00000324180.4:n.*523_*524del
ENST00000301633.8:c.*523_*524del	ENSP00000301633.3:n.*523_*524del
ENST00000350051.7:c.*523_*524del	ENSP00000324180.4:n.*523_*524del
ENST00000374948.6:c.*420_*421del	ENSP00000364086.1:n.*420_*421del
NM_001012270.1:c.*420_*421del	NP_001012270.1:n.*420_*421del
NM_001012271.1:c.*523_*524del	NP_001012271.1:n.*523_*524del
NM_001168.2:c.*523_*524del	NP_001159.2:n.*523_*524del
XR_243654.3:n.1154_1155del
XR_934452.1:n.1223_1224del
XR_243654.5:n.1154_1155del
XR_934452.3:n.1223_1224del
NM_001168.3:c.*523_*524del MANE Select	NP_001159.2:n.*523_*524del
NM_001012270.2:c.*420_*421del	NP_001012270.1:n.*420_*421del
NM_001012271.2:c.*523_*524del	NP_001012271.1:n.*523_*524del