Canonical Allele Identifier: CA378934145

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.688022G>A , CM000673.2:g.688022G>A	GRCh38
NC_000011.9:g.688022G>A , CM000673.1:g.688022G>A	GRCh37
NC_000011.8:g.678022G>A	NCBI36
NG_034156.1:g.12733C>T
NG_034156.2:g.24062C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.553C>T MANE Select	NP_066288.2:p.Gln185Ter
ENST00000382409.4:c.553C>T MANE Select	ENSP00000371846.3:p.Gln185Ter
NM_001293634.1:c.553C>T	NP_001280563.1:p.Gln185Ter
NM_001367390.1:c.-174C>T	NP_001354319.1:n.-174C>T
NM_021008.3:c.553C>T	NP_066288.2:p.Gln185Ter
ENST00000382409.3:c.553C>T	ENSP00000371846.3:p.Gln185Ter
ENST00000524786.1:n.365C>T
ENST00000525626.5:n.408C>T
ENST00000525626.6:n.438C>T
ENST00000528864.5:n.420C>T
ENST00000528864.6:n.439C>T
ENST00000529717.5:c.517C>T
ENST00000529717.6:c.*258C>T	ENSP00000432518.2:n.*258C>T
ENST00000530813.2:c.*176C>T	ENSP00000508507.1:n.*176C>T
ENST00000682936.1:n.313C>T
ENST00000683307.1:c.-174C>T	ENSP00000507198.1:n.-174C>T
ENST00000684249.1:n.741C>T
ENST00000685854.1:c.349C>T	ENSP00000508801.1:p.Gln117Ter
ENST00000686001.1:c.349C>T	ENSP00000508459.1:p.Gln117Ter
ENST00000687329.1:c.349C>T	ENSP00000510598.1:p.Gln117Ter
ENST00000689835.1:c.349C>T	ENSP00000510621.1:p.Gln117Ter
ENST00000690068.1:c.349C>T	ENSP00000509089.1:p.Gln117Ter
ENST00000692634.1:c.349C>T	ENSP00000508859.1:p.Gln117Ter
ENST00000693164.1:n.547C>T
XM_011519842.1:c.553C>T	XP_011518144.1:p.Gln185Ter
XM_011519842.3:c.553C>T	XP_011518144.1:p.Gln185Ter
XM_011519843.1:c.553C>T	XP_011518145.1:p.Gln185Ter
XM_024448325.1:c.553C>T	XP_024304093.1:p.Gln185Ter
XM_024448326.1:c.553C>T	XP_024304094.1:p.Gln185Ter
XM_024448327.1:c.553C>T	XP_024304095.1:p.Gln185Ter
XR_428838.2:n.559C>T
XR_930843.1:n.559C>T