Canonical Allele Identifier: CA2640138682

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223510-G-GAAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223511_78223512insAAGAA , CM000679.2:g.78223511_78223512insAAGAA	GRCh38
NC_000017.10:g.76219592_76219593insAAGAA , CM000679.1:g.76219592_76219593insAAGAA	GRCh37
NC_000017.9:g.73731187_73731188insAAGAA	NCBI36
NG_029069.1:g.14316_14317insAAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.386_387insAAGAA MANE Select	ENSP00000324180.4:p.Lys130ArgfsTer?
ENST00000301633.8:c.455_456insAAGAA	ENSP00000301633.3:p.Lys153ArgfsTer?
ENST00000350051.7:c.386_387insAAGAA	ENSP00000324180.4:p.Lys130ArgfsTer?
ENST00000374948.6:c.268_269insAAGAA	ENSP00000364086.1:p.Arg90LysfsTer?
ENST00000589892.1:n.402_403insAAGAA
ENST00000590925.6:c.*188_*189insAAGAA	ENSP00000467336.1:n.*188_*189insAAGAA
NM_001012270.1:c.268_269insAAGAA	NP_001012270.1:p.Arg90LysfsTer?
NM_001012271.1:c.455_456insAAGAA	NP_001012271.1:p.Lys153ArgfsTer?
NM_001168.2:c.386_387insAAGAA	NP_001159.2:p.Lys130ArgfsTer?
XR_243654.3:n.588_589insAAGAA
XR_934452.1:n.657_658insAAGAA
XR_243654.5:n.588_589insAAGAA
XR_934452.3:n.657_658insAAGAA
NM_001168.3:c.386_387insAAGAA MANE Select	NP_001159.2:p.Lys130ArgfsTer?
NM_001012270.2:c.268_269insAAGAA	NP_001012270.1:p.Arg90LysfsTer?
NM_001012271.2:c.455_456insAAGAA	NP_001012271.1:p.Lys153ArgfsTer?