Canonical Allele Identifier: CA378933523

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.687962C>G , CM000673.2:g.687962C>G	GRCh38
NC_000011.9:g.687962C>G , CM000673.1:g.687962C>G	GRCh37
NC_000011.8:g.677962C>G	NCBI36
NG_034156.1:g.12793G>C
NG_034156.2:g.24122G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.613G>C MANE Select	NP_066288.2:p.Val205Leu
ENST00000382409.4:c.613G>C MANE Select	ENSP00000371846.3:p.Val205Leu
NM_001293634.1:c.613G>C	NP_001280563.1:p.Val205Leu
NM_001367390.1:c.-114G>C	NP_001354319.1:n.-114G>C
NM_021008.3:c.613G>C	NP_066288.2:p.Val205Leu
ENST00000382409.3:c.613G>C	ENSP00000371846.3:p.Val205Leu
ENST00000524786.1:n.425G>C
ENST00000525626.5:n.468G>C
ENST00000525626.6:n.498G>C
ENST00000528864.5:n.480G>C
ENST00000528864.6:n.499G>C
ENST00000529717.5:c.577G>C
ENST00000529717.6:c.*318G>C	ENSP00000432518.2:n.*318G>C
ENST00000530813.2:c.*236G>C	ENSP00000508507.1:n.*236G>C
ENST00000682936.1:n.373G>C
ENST00000683307.1:c.-114G>C	ENSP00000507198.1:n.-114G>C
ENST00000684249.1:n.801G>C
ENST00000685854.1:c.409G>C	ENSP00000508801.1:p.Val137Leu
ENST00000686001.1:c.409G>C	ENSP00000508459.1:p.Val137Leu
ENST00000687329.1:c.409G>C	ENSP00000510598.1:p.Val137Leu
ENST00000689835.1:c.409G>C	ENSP00000510621.1:p.Val137Leu
ENST00000690068.1:c.409G>C	ENSP00000509089.1:p.Val137Leu
ENST00000692634.1:c.409G>C	ENSP00000508859.1:p.Val137Leu
ENST00000693164.1:n.607G>C
XM_011519842.1:c.613G>C	XP_011518144.1:p.Val205Leu
XM_011519842.3:c.613G>C	XP_011518144.1:p.Val205Leu
XM_011519843.1:c.613G>C	XP_011518145.1:p.Val205Leu
XM_024448325.1:c.613G>C	XP_024304093.1:p.Val205Leu
XM_024448326.1:c.613G>C	XP_024304094.1:p.Val205Leu
XM_024448327.1:c.613G>C	XP_024304095.1:p.Val205Leu
XR_428838.2:n.619G>C
XR_930843.1:n.619G>C