Canonical Allele Identifier: CA2640134727

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224048-GTTGTTGTGTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224051_78224061del , CM000679.2:g.78224051_78224061del	GRCh38
NC_000017.10:g.76220132_76220142del , CM000679.1:g.76220132_76220142del	GRCh37
NC_000017.9:g.73731727_73731737del	NCBI36
NG_029069.1:g.14856_14866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*497_*507del MANE Select	ENSP00000324180.4:n.*497_*507del
ENST00000301633.8:c.*497_*507del	ENSP00000301633.3:n.*497_*507del
ENST00000350051.7:c.*497_*507del	ENSP00000324180.4:n.*497_*507del
ENST00000374948.6:c.*394_*404del	ENSP00000364086.1:n.*394_*404del
NM_001012270.1:c.*394_*404del	NP_001012270.1:n.*394_*404del
NM_001012271.1:c.*497_*507del	NP_001012271.1:n.*497_*507del
NM_001168.2:c.*497_*507del	NP_001159.2:n.*497_*507del
XR_243654.3:n.1128_1138del
XR_934452.1:n.1197_1207del
XR_243654.5:n.1128_1138del
XR_934452.3:n.1197_1207del
NM_001168.3:c.*497_*507del MANE Select	NP_001159.2:n.*497_*507del
NM_001012270.2:c.*394_*404del	NP_001012270.1:n.*394_*404del
NM_001012271.2:c.*497_*507del	NP_001012271.1:n.*497_*507del