Canonical Allele Identifier: CA2640134726

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224048-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224049_78224050del , CM000679.2:g.78224049_78224050del	GRCh38
NC_000017.10:g.76220130_76220131del , CM000679.1:g.76220130_76220131del	GRCh37
NC_000017.9:g.73731725_73731726del	NCBI36
NG_029069.1:g.14854_14855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*495_*496del MANE Select	ENSP00000324180.4:n.*495_*496del
ENST00000301633.8:c.*495_*496del	ENSP00000301633.3:n.*495_*496del
ENST00000350051.7:c.*495_*496del	ENSP00000324180.4:n.*495_*496del
ENST00000374948.6:c.*392_*393del	ENSP00000364086.1:n.*392_*393del
NM_001012270.1:c.*392_*393del	NP_001012270.1:n.*392_*393del
NM_001012271.1:c.*495_*496del	NP_001012271.1:n.*495_*496del
NM_001168.2:c.*495_*496del	NP_001159.2:n.*495_*496del
XR_243654.3:n.1126_1127del
XR_934452.1:n.1195_1196del
XR_243654.5:n.1126_1127del
XR_934452.3:n.1195_1196del
NM_001168.3:c.*495_*496del MANE Select	NP_001159.2:n.*495_*496del
NM_001012270.2:c.*392_*393del	NP_001012270.1:n.*392_*393del
NM_001012271.2:c.*495_*496del	NP_001012271.1:n.*495_*496del