Canonical Allele Identifier: CA2640134714

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224044-TTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224047_78224050del , CM000679.2:g.78224047_78224050del	GRCh38
NC_000017.10:g.76220128_76220131del , CM000679.1:g.76220128_76220131del	GRCh37
NC_000017.9:g.73731723_73731726del	NCBI36
NG_029069.1:g.14852_14855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*493_*496del MANE Select	ENSP00000324180.4:n.*493_*496del
ENST00000301633.8:c.*493_*496del	ENSP00000301633.3:n.*493_*496del
ENST00000350051.7:c.*493_*496del	ENSP00000324180.4:n.*493_*496del
ENST00000374948.6:c.*390_*393del	ENSP00000364086.1:n.*390_*393del
NM_001012270.1:c.*390_*393del	NP_001012270.1:n.*390_*393del
NM_001012271.1:c.*493_*496del	NP_001012271.1:n.*493_*496del
NM_001168.2:c.*493_*496del	NP_001159.2:n.*493_*496del
XR_243654.3:n.1124_1127del
XR_934452.1:n.1193_1196del
XR_243654.5:n.1124_1127del
XR_934452.3:n.1193_1196del
NM_001168.3:c.*493_*496del MANE Select	NP_001159.2:n.*493_*496del
NM_001012270.2:c.*390_*393del	NP_001012270.1:n.*390_*393del
NM_001012271.2:c.*493_*496del	NP_001012271.1:n.*493_*496del