Canonical Allele Identifier: CA986568303

Gene: BIRC5

Linked Data

• dbSNP Id: rs2076533117
• gnomAD v3: 17-78224048-GT-G
• gnomAD v4: 17-78224048-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224050del , CM000679.2:g.78224050del	GRCh38
NC_000017.10:g.76220131del , CM000679.1:g.76220131del	GRCh37
NC_000017.9:g.73731726del	NCBI36
NG_029069.1:g.14855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*496del MANE Select	ENSP00000324180.4:n.*496del
ENST00000301633.8:c.*496del	ENSP00000301633.3:n.*496del
ENST00000350051.7:c.*496del	ENSP00000324180.4:n.*496del
ENST00000374948.6:c.*393del	ENSP00000364086.1:n.*393del
NM_001012270.1:c.*393del	NP_001012270.1:n.*393del
NM_001012271.1:c.*496del	NP_001012271.1:n.*496del
NM_001168.2:c.*496del	NP_001159.2:n.*496del
XR_243654.3:n.1127del
XR_934452.1:n.1196del
XR_243654.5:n.1127del
XR_934452.3:n.1196del
NM_001168.3:c.*496del MANE Select	NP_001159.2:n.*496del
NM_001012270.2:c.*393del	NP_001012270.1:n.*393del
NM_001012271.2:c.*496del	NP_001012271.1:n.*496del