Canonical Allele Identifier: CA1947253073

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686986G= , CM000673.2:g.686986G=	GRCh38
NC_000011.9:g.686986G= , CM000673.1:g.686986G=	GRCh37
NC_000011.8:g.676986G=	NCBI36
NG_034156.1:g.13769C=
NG_034156.2:g.25098C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.561C=
ENST00000528864.6:n.562C=
ENST00000529717.6:c.*381C=	ENSP00000432518.2:n.*381C=
ENST00000530813.2:c.*299C=	ENSP00000508507.1:n.*299C=
ENST00000682936.1:n.436C=
ENST00000683307.1:c.-51C=	ENSP00000507198.1:n.-51C=
ENST00000684249.1:n.864C=
ENST00000685854.1:c.472C=	ENSP00000508801.1:p.Arg158=
ENST00000686001.1:c.472C=	ENSP00000508459.1:p.Arg158=
ENST00000687329.1:c.472C=	ENSP00000510598.1:p.Arg158=
ENST00000689835.1:c.472C=	ENSP00000510621.1:p.Arg158=
ENST00000690068.1:c.472C=	ENSP00000509089.1:p.Arg158=
ENST00000692634.1:c.472C=	ENSP00000508859.1:p.Arg158=
ENST00000693164.1:n.670C=
ENST00000382409.4:c.676C= MANE Select	ENSP00000371846.3:p.Arg226=
ENST00000382409.3:c.676C=	ENSP00000371846.3:p.Arg226=
ENST00000525626.5:n.531C=
ENST00000527170.5:c.38C=
ENST00000528864.5:n.543C=
ENST00000529717.5:c.640C=
NM_001293634.1:c.664+925C=	NP_001280563.1:n.664+925C=
NM_021008.3:c.676C=	NP_066288.2:p.Arg226=
XM_011519842.1:c.676C=	XP_011518144.1:p.Arg226=
XM_011519843.1:c.676C=	XP_011518145.1:p.Arg226=
XR_428838.2:n.682C=
XR_930843.1:n.682C=
XM_011519842.3:c.676C=	XP_011518144.1:p.Arg226=
XM_024448325.1:c.676C=	XP_024304093.1:p.Arg226=
XM_024448326.1:c.676C=	XP_024304094.1:p.Arg226=
XM_024448327.1:c.676C=	XP_024304095.1:p.Arg226=
NM_001367390.1:c.-51C=	NP_001354319.1:n.-51C=
NM_021008.4:c.676C= MANE Select	NP_066288.2:p.Arg226=