Canonical Allele Identifier: CA2611731478

Gene: DEAF1

Linked Data

• gnomAD v4: 11-686967-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686972dup , CM000673.2:g.686972dup	GRCh38
NC_000011.9:g.686972dup , CM000673.1:g.686972dup	GRCh37
NC_000011.8:g.676972dup	NCBI36
NG_034156.1:g.13787dup
NG_034156.2:g.25116dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.579dup
ENST00000528864.6:n.580dup
ENST00000529717.6:c.*399dup	ENSP00000432518.2:n.*399dup
ENST00000530813.2:c.*317dup	ENSP00000508507.1:n.*317dup
ENST00000682936.1:n.454dup
ENST00000683307.1:c.-33dup	ENSP00000507198.1:n.-33dup
ENST00000684249.1:n.882dup
ENST00000685854.1:c.490dup	ENSP00000508801.1:p.Glu164GlyfsTer10
ENST00000686001.1:c.490dup	ENSP00000508459.1:p.Glu164GlyfsTer10
ENST00000687329.1:c.490dup	ENSP00000510598.1:p.Glu164GlyfsTer10
ENST00000689835.1:c.490dup	ENSP00000510621.1:p.Glu164GlyfsTer10
ENST00000690068.1:c.490dup	ENSP00000509089.1:p.Glu164GlyfsTer10
ENST00000692634.1:c.490dup	ENSP00000508859.1:p.Glu164GlyfsTer10
ENST00000693164.1:n.688dup
ENST00000382409.4:c.694dup MANE Select	ENSP00000371846.3:p.Glu232GlyfsTer10
ENST00000382409.3:c.694dup	ENSP00000371846.3:p.Glu232GlyfsTer10
ENST00000525626.5:n.549dup
ENST00000527170.5:c.56dup
ENST00000529717.5:c.658dup
NM_001293634.1:c.664+943dup	NP_001280563.1:n.664+943dup
NM_021008.3:c.694dup	NP_066288.2:p.Glu232GlyfsTer10
XM_011519842.1:c.694dup	XP_011518144.1:p.Glu232GlyfsTer10
XM_011519843.1:c.694dup	XP_011518145.1:p.Glu232GlyfsTer10
XR_428838.2:n.700dup
XR_930843.1:n.700dup
XM_011519842.3:c.694dup	XP_011518144.1:p.Glu232GlyfsTer10
XM_024448325.1:c.694dup	XP_024304093.1:p.Glu232GlyfsTer10
XM_024448326.1:c.694dup	XP_024304094.1:p.Glu232GlyfsTer10
XM_024448327.1:c.694dup	XP_024304095.1:p.Glu232GlyfsTer10
NM_001367390.1:c.-33dup	NP_001354319.1:n.-33dup
NM_021008.4:c.694dup MANE Select	NP_066288.2:p.Glu232GlyfsTer10