Canonical Allele Identifier: CA378928632

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.681077T>C , CM000673.2:g.681077T>C	GRCh38
NC_000011.9:g.681077T>C , CM000673.1:g.681077T>C	GRCh37
NC_000011.8:g.671077T>C	NCBI36
NG_034156.1:g.19678A>G
NG_034156.2:g.31007A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.883A>G MANE Select	NP_066288.2:p.Arg295Gly
ENST00000382409.4:c.883A>G MANE Select	ENSP00000371846.3:p.Arg295Gly
NM_001293634.1:c.731-1261A>G	NP_001280563.1:n.731-1261A>G
NM_001367390.1:c.157A>G	NP_001354319.1:p.Arg53Gly
NM_021008.3:c.883A>G	NP_066288.2:p.Arg295Gly
ENST00000382409.3:c.883A>G	ENSP00000371846.3:p.Arg295Gly
ENST00000525626.6:n.768A>G
ENST00000527170.5:c.245A>G
ENST00000528864.6:n.769A>G
ENST00000530813.1:n.87A>G
ENST00000530813.2:c.*506A>G	ENSP00000508507.1:n.*506A>G
ENST00000682936.1:n.643A>G
ENST00000683307.1:c.157A>G	ENSP00000507198.1:p.Arg53Gly
ENST00000685854.1:c.679A>G	ENSP00000508801.1:p.Arg227Gly
ENST00000686001.1:c.679A>G	ENSP00000508459.1:p.Arg227Gly
ENST00000687329.1:c.679A>G	ENSP00000510598.1:p.Arg227Gly
ENST00000689835.1:c.679A>G	ENSP00000510621.1:p.Arg227Gly
ENST00000690068.1:c.679A>G	ENSP00000509089.1:p.Arg227Gly
ENST00000692634.1:c.667-2255A>G	ENSP00000508859.1:n.667-2255A>G
ENST00000693164.1:n.877A>G
XM_011519842.1:c.883A>G	XP_011518144.1:p.Arg295Gly
XM_011519842.3:c.883A>G	XP_011518144.1:p.Arg295Gly
XM_011519843.1:c.883A>G	XP_011518145.1:p.Arg295Gly
XM_024448325.1:c.883A>G	XP_024304093.1:p.Arg295Gly
XM_024448326.1:c.883A>G	XP_024304094.1:p.Arg295Gly
XM_024448327.1:c.883A>G	XP_024304095.1:p.Arg295Gly
XR_428838.2:n.889A>G
XR_930843.1:n.889A>G