Canonical Allele Identifier: CA1947253066

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686974G= , CM000673.2:g.686974G=	GRCh38
NC_000011.9:g.686974G= , CM000673.1:g.686974G=	GRCh37
NC_000011.8:g.676974G=	NCBI36
NG_034156.1:g.13781C=
NG_034156.2:g.25110C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.573C=
ENST00000528864.6:n.574C=
ENST00000529717.6:c.*393C=	ENSP00000432518.2:n.*393C=
ENST00000530813.2:c.*311C=	ENSP00000508507.1:n.*311C=
ENST00000682936.1:n.448C=
ENST00000683307.1:c.-39C=	ENSP00000507198.1:n.-39C=
ENST00000684249.1:n.876C=
ENST00000685854.1:c.484C=	ENSP00000508801.1:p.Gln162=
ENST00000686001.1:c.484C=	ENSP00000508459.1:p.Gln162=
ENST00000687329.1:c.484C=	ENSP00000510598.1:p.Gln162=
ENST00000689835.1:c.484C=	ENSP00000510621.1:p.Gln162=
ENST00000690068.1:c.484C=	ENSP00000509089.1:p.Gln162=
ENST00000692634.1:c.484C=	ENSP00000508859.1:p.Gln162=
ENST00000693164.1:n.682C=
ENST00000382409.4:c.688C= MANE Select	ENSP00000371846.3:p.Gln230=
ENST00000382409.3:c.688C=	ENSP00000371846.3:p.Gln230=
ENST00000525626.5:n.543C=
ENST00000527170.5:c.50C=
ENST00000528864.5:n.555C=
ENST00000529717.5:c.652C=
NM_001293634.1:c.664+937C=	NP_001280563.1:n.664+937C=
NM_021008.3:c.688C=	NP_066288.2:p.Gln230=
XM_011519842.1:c.688C=	XP_011518144.1:p.Gln230=
XM_011519843.1:c.688C=	XP_011518145.1:p.Gln230=
XR_428838.2:n.694C=
XR_930843.1:n.694C=
XM_011519842.3:c.688C=	XP_011518144.1:p.Gln230=
XM_024448325.1:c.688C=	XP_024304093.1:p.Gln230=
XM_024448326.1:c.688C=	XP_024304094.1:p.Gln230=
XM_024448327.1:c.688C=	XP_024304095.1:p.Gln230=
NM_001367390.1:c.-39C=	NP_001354319.1:n.-39C=
NM_021008.4:c.688C= MANE Select	NP_066288.2:p.Gln230=