Canonical Allele Identifier: CA378932923

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686991C>T , CM000673.2:g.686991C>T	GRCh38
NC_000011.9:g.686991C>T , CM000673.1:g.686991C>T	GRCh37
NC_000011.8:g.676991C>T	NCBI36
NG_034156.1:g.13764G>A
NG_034156.2:g.25093G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.671G>A MANE Select	NP_066288.2:p.Arg224Gln
ENST00000382409.4:c.671G>A MANE Select	ENSP00000371846.3:p.Arg224Gln
NM_001293634.1:c.664+920G>A	NP_001280563.1:n.664+920G>A
NM_001367390.1:c.-56G>A	NP_001354319.1:n.-56G>A
NM_021008.3:c.671G>A	NP_066288.2:p.Arg224Gln
ENST00000382409.3:c.671G>A	ENSP00000371846.3:p.Arg224Gln
ENST00000525626.5:n.526G>A
ENST00000525626.6:n.556G>A
ENST00000527170.5:c.33G>A
ENST00000528864.5:n.538G>A
ENST00000528864.6:n.557G>A
ENST00000529717.5:c.635G>A
ENST00000529717.6:c.*376G>A	ENSP00000432518.2:n.*376G>A
ENST00000530813.2:c.*294G>A	ENSP00000508507.1:n.*294G>A
ENST00000682936.1:n.431G>A
ENST00000683307.1:c.-56G>A	ENSP00000507198.1:n.-56G>A
ENST00000684249.1:n.859G>A
ENST00000685854.1:c.467G>A	ENSP00000508801.1:p.Arg156Gln
ENST00000686001.1:c.467G>A	ENSP00000508459.1:p.Arg156Gln
ENST00000687329.1:c.467G>A	ENSP00000510598.1:p.Arg156Gln
ENST00000689835.1:c.467G>A	ENSP00000510621.1:p.Arg156Gln
ENST00000690068.1:c.467G>A	ENSP00000509089.1:p.Arg156Gln
ENST00000692634.1:c.467G>A	ENSP00000508859.1:p.Arg156Gln
ENST00000693164.1:n.665G>A
XM_011519842.1:c.671G>A	XP_011518144.1:p.Arg224Gln
XM_011519842.3:c.671G>A	XP_011518144.1:p.Arg224Gln
XM_011519843.1:c.671G>A	XP_011518145.1:p.Arg224Gln
XM_024448325.1:c.671G>A	XP_024304093.1:p.Arg224Gln
XM_024448326.1:c.671G>A	XP_024304094.1:p.Arg224Gln
XM_024448327.1:c.671G>A	XP_024304095.1:p.Arg224Gln
XR_428838.2:n.677G>A
XR_930843.1:n.677G>A