Canonical Allele Identifier: CA891842486

Gene: SPI1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47359859_47359861delinsCT , CM000673.2:g.47359859_47359861delinsCT	GRCh38
NC_000011.9:g.47381410_47381412delinsCT , CM000673.1:g.47381410_47381412delinsCT	GRCh37
NC_000011.8:g.47337986_47337988delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003120.3:c.322_324delinsAG MANE Select	NP_003111.2:p.Gly108SerfsTer?
ENST00000378538.8:c.322_324delinsAG MANE Select	ENSP00000367799.4:p.Gly108SerfsTer?
NM_001080547.1:c.325_327delinsAG	NP_001074016.1:p.Gly109SerfsTer?
NM_001080547.2:c.325_327delinsAG	NP_001074016.1:p.Gly109SerfsTer?
NM_003120.2:c.322_324delinsAG	NP_003111.2:p.Gly108SerfsTer?
ENST00000227163.8:c.325_327delinsAG	ENSP00000227163.4:p.Gly109SerfsTer?
ENST00000378538.7:c.322_324delinsAG	ENSP00000367799.3:p.Gly108SerfsTer?
ENST00000533030.1:c.46-4315_46-4313delinsAG	ENSP00000443865.1:n.46-4315_46-4313delinsAG
ENST00000533968.1:c.322_324delinsAG	ENSP00000438846.1:p.Gly108SerfsTer?
ENST00000713542.1:c.322_324delinsAG	ENSP00000518838.1:p.Gly108SerfsTer?
ENST00000713543.1:c.61_63delinsAG	ENSP00000518839.1:p.Gly21SerfsTer?
XM_011520305.1:c.61_63delinsAG	XP_011518607.1:p.Gly21SerfsTer?
XM_011520306.1:c.61_63delinsAG	XP_011518608.1:p.Gly21SerfsTer?
XM_011520307.1:c.61_63delinsAG	XP_011518609.1:p.Gly21SerfsTer?
XM_011520308.1:c.61_63delinsAG	XP_011518610.1:p.Gly21SerfsTer?
XM_017018173.1:c.61_63delinsAG	XP_016873662.1:p.Gly21SerfsTer?