Canonical Allele Identifier: CA1947253061

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686966C= , CM000673.2:g.686966C=	GRCh38
NC_000011.9:g.686966C= , CM000673.1:g.686966C=	GRCh37
NC_000011.8:g.676966C=	NCBI36
NG_034156.1:g.13789G=
NG_034156.2:g.25118G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.581G=
ENST00000528864.6:n.582G=
ENST00000529717.6:c.*401G=	ENSP00000432518.2:n.*401G=
ENST00000530813.2:c.*319G=	ENSP00000508507.1:n.*319G=
ENST00000682936.1:n.456G=
ENST00000683307.1:c.-31G=	ENSP00000507198.1:n.-31G=
ENST00000684249.1:n.884G=
ENST00000685854.1:c.492G=	ENSP00000508801.1:p.Glu164=
ENST00000686001.1:c.492G=	ENSP00000508459.1:p.Glu164=
ENST00000687329.1:c.492G=	ENSP00000510598.1:p.Glu164=
ENST00000689835.1:c.492G=	ENSP00000510621.1:p.Glu164=
ENST00000690068.1:c.492G=	ENSP00000509089.1:p.Glu164=
ENST00000692634.1:c.492G=	ENSP00000508859.1:p.Glu164=
ENST00000693164.1:n.690G=
ENST00000382409.4:c.696G= MANE Select	ENSP00000371846.3:p.Glu232=
ENST00000382409.3:c.696G=	ENSP00000371846.3:p.Glu232=
ENST00000525626.5:n.551G=
ENST00000527170.5:c.58G=
ENST00000529717.5:c.660G=
NM_001293634.1:c.664+945G=	NP_001280563.1:n.664+945G=
NM_021008.3:c.696G=	NP_066288.2:p.Glu232=
XM_011519842.1:c.696G=	XP_011518144.1:p.Glu232=
XM_011519843.1:c.696G=	XP_011518145.1:p.Glu232=
XR_428838.2:n.702G=
XR_930843.1:n.702G=
XM_011519842.3:c.696G=	XP_011518144.1:p.Glu232=
XM_024448325.1:c.696G=	XP_024304093.1:p.Glu232=
XM_024448326.1:c.696G=	XP_024304094.1:p.Glu232=
XM_024448327.1:c.696G=	XP_024304095.1:p.Glu232=
NM_001367390.1:c.-31G=	NP_001354319.1:n.-31G=
NM_021008.4:c.696G= MANE Select	NP_066288.2:p.Glu232=