Canonical Allele Identifier: CA1947253011

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686864G= , CM000673.2:g.686864G=	GRCh38
NC_000011.9:g.686864G= , CM000673.1:g.686864G=	GRCh37
NC_000011.8:g.676864G=	NCBI36
NG_034156.1:g.13891C=
NG_034156.2:g.25220C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.683C=
ENST00000528864.6:n.684C=
ENST00000530813.2:c.*421C=	ENSP00000508507.1:n.*421C=
ENST00000682936.1:n.558C=
ENST00000683307.1:c.72C=	ENSP00000507198.1:p.Leu24=
ENST00000684249.1:n.986C=
ENST00000685854.1:c.594C=	ENSP00000508801.1:p.Leu198=
ENST00000686001.1:c.594C=	ENSP00000508459.1:p.Leu198=
ENST00000687329.1:c.594C=	ENSP00000510598.1:p.Leu198=
ENST00000689835.1:c.594C=	ENSP00000510621.1:p.Leu198=
ENST00000690068.1:c.594C=	ENSP00000509089.1:p.Leu198=
ENST00000692634.1:c.594C=	ENSP00000508859.1:p.Leu198=
ENST00000693164.1:n.792C=
ENST00000382409.4:c.798C= MANE Select	ENSP00000371846.3:p.Leu266=
ENST00000382409.3:c.798C=	ENSP00000371846.3:p.Leu266=
ENST00000527170.5:c.160C=
NM_001293634.1:c.664+1047C=	NP_001280563.1:n.664+1047C=
NM_021008.3:c.798C=	NP_066288.2:p.Leu266=
XM_011519842.1:c.798C=	XP_011518144.1:p.Leu266=
XM_011519843.1:c.798C=	XP_011518145.1:p.Leu266=
XR_428838.2:n.804C=
XR_930843.1:n.804C=
XM_011519842.3:c.798C=	XP_011518144.1:p.Leu266=
XM_024448325.1:c.798C=	XP_024304093.1:p.Leu266=
XM_024448326.1:c.798C=	XP_024304094.1:p.Leu266=
XM_024448327.1:c.798C=	XP_024304095.1:p.Leu266=
NM_001367390.1:c.72C=	NP_001354319.1:p.Leu24=
NM_021008.4:c.798C= MANE Select	NP_066288.2:p.Leu266=