Canonical Allele Identifier: CA16043461

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686995C>T , CM000673.2:g.686995C>T	GRCh38
NC_000011.9:g.686995C>T , CM000673.1:g.686995C>T	GRCh37
NC_000011.8:g.676995C>T	NCBI36
NG_034156.1:g.13760G>A
NG_034156.2:g.25089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.552G>A
ENST00000528864.6:n.553G>A
ENST00000529717.6:c.*372G>A	ENSP00000432518.2:n.*372G>A
ENST00000530813.2:c.*290G>A	ENSP00000508507.1:n.*290G>A
ENST00000682936.1:n.427G>A
ENST00000683307.1:c.-60G>A	ENSP00000507198.1:n.-60G>A
ENST00000684249.1:n.855G>A
ENST00000685854.1:c.463G>A	ENSP00000508801.1:p.Gly155Ser
ENST00000686001.1:c.463G>A	ENSP00000508459.1:p.Gly155Ser
ENST00000687329.1:c.463G>A	ENSP00000510598.1:p.Gly155Ser
ENST00000689835.1:c.463G>A	ENSP00000510621.1:p.Gly155Ser
ENST00000690068.1:c.463G>A	ENSP00000509089.1:p.Gly155Ser
ENST00000692634.1:c.463G>A	ENSP00000508859.1:p.Gly155Ser
ENST00000693164.1:n.661G>A
ENST00000382409.4:c.667G>A MANE Select	ENSP00000371846.3:p.Gly223Ser
ENST00000382409.3:c.667G>A	ENSP00000371846.3:p.Gly223Ser
ENST00000525626.5:n.522G>A
ENST00000527170.5:c.29G>A
ENST00000528864.5:n.534G>A
ENST00000529717.5:c.631G>A
NM_001293634.1:c.664+916G>A	NP_001280563.1:n.664+916G>A
NM_021008.3:c.667G>A	NP_066288.2:p.Gly223Ser
XM_011519842.1:c.667G>A	XP_011518144.1:p.Gly223Ser
XM_011519843.1:c.667G>A	XP_011518145.1:p.Gly223Ser
XR_428838.2:n.673G>A
XR_930843.1:n.673G>A
XM_011519842.3:c.667G>A	XP_011518144.1:p.Gly223Ser
XM_024448325.1:c.667G>A	XP_024304093.1:p.Gly223Ser
XM_024448326.1:c.667G>A	XP_024304094.1:p.Gly223Ser
XM_024448327.1:c.667G>A	XP_024304095.1:p.Gly223Ser
NM_001367390.1:c.-60G>A	NP_001354319.1:n.-60G>A
NM_021008.4:c.667G>A MANE Select	NP_066288.2:p.Gly223Ser