Canonical Allele Identifier: CA378928644

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.681080C>G , CM000673.2:g.681080C>G	GRCh38
NC_000011.9:g.681080C>G , CM000673.1:g.681080C>G	GRCh37
NC_000011.8:g.671080C>G	NCBI36
NG_034156.1:g.19675G>C
NG_034156.2:g.31004G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.880G>C MANE Select	NP_066288.2:p.Val294Leu
ENST00000382409.4:c.880G>C MANE Select	ENSP00000371846.3:p.Val294Leu
NM_001293634.1:c.731-1264G>C	NP_001280563.1:n.731-1264G>C
NM_001367390.1:c.154G>C	NP_001354319.1:p.Val52Leu
NM_021008.3:c.880G>C	NP_066288.2:p.Val294Leu
ENST00000382409.3:c.880G>C	ENSP00000371846.3:p.Val294Leu
ENST00000525626.6:n.765G>C
ENST00000527170.5:c.242G>C
ENST00000528864.6:n.766G>C
ENST00000530813.1:n.84G>C
ENST00000530813.2:c.*503G>C	ENSP00000508507.1:n.*503G>C
ENST00000682936.1:n.640G>C
ENST00000683307.1:c.154G>C	ENSP00000507198.1:p.Val52Leu
ENST00000685854.1:c.676G>C	ENSP00000508801.1:p.Val226Leu
ENST00000686001.1:c.676G>C	ENSP00000508459.1:p.Val226Leu
ENST00000687329.1:c.676G>C	ENSP00000510598.1:p.Val226Leu
ENST00000689835.1:c.676G>C	ENSP00000510621.1:p.Val226Leu
ENST00000690068.1:c.676G>C	ENSP00000509089.1:p.Val226Leu
ENST00000692634.1:c.667-2258G>C	ENSP00000508859.1:n.667-2258G>C
ENST00000693164.1:n.874G>C
XM_011519842.1:c.880G>C	XP_011518144.1:p.Val294Leu
XM_011519842.3:c.880G>C	XP_011518144.1:p.Val294Leu
XM_011519843.1:c.880G>C	XP_011518145.1:p.Val294Leu
XM_024448325.1:c.880G>C	XP_024304093.1:p.Val294Leu
XM_024448326.1:c.880G>C	XP_024304094.1:p.Val294Leu
XM_024448327.1:c.880G>C	XP_024304095.1:p.Val294Leu
XR_428838.2:n.886G>C
XR_930843.1:n.886G>C