Canonical Allele Identifier: CA2573869131

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686905dup , CM000673.2:g.686905dup	GRCh38
NC_000011.9:g.686905dup , CM000673.1:g.686905dup	GRCh37
NC_000011.8:g.676905dup	NCBI36
NG_034156.1:g.13853dup
NG_034156.2:g.25182dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000525626.6:n.645dup
ENST00000528864.6:n.646dup
ENST00000530813.2:c.*383dup	ENSP00000508507.1:n.*383dup
ENST00000682936.1:n.520dup
ENST00000683307.1:c.34dup	ENSP00000507198.1:p.Arg12LysfsTer?
ENST00000684249.1:n.948dup
ENST00000685854.1:c.556dup	ENSP00000508801.1:p.Arg186LysfsTer?
ENST00000686001.1:c.556dup	ENSP00000508459.1:p.Arg186LysfsTer?
ENST00000687329.1:c.556dup	ENSP00000510598.1:p.Arg186LysfsTer?
ENST00000689835.1:c.556dup	ENSP00000510621.1:p.Arg186LysfsTer?
ENST00000690068.1:c.556dup	ENSP00000509089.1:p.Arg186LysfsTer?
ENST00000692634.1:c.556dup	ENSP00000508859.1:p.Arg186LysfsTer?
ENST00000693164.1:n.754dup
ENST00000382409.4:c.760dup MANE Select	ENSP00000371846.3:p.Arg254LysfsTer?
ENST00000382409.3:c.760dup	ENSP00000371846.3:p.Arg254LysfsTer?
ENST00000527170.5:c.122dup
NM_001293634.1:c.664+1009dup	NP_001280563.1:n.664+1009dup
NM_021008.3:c.760dup	NP_066288.2:p.Arg254LysfsTer?
XM_011519842.1:c.760dup	XP_011518144.1:p.Arg254LysfsTer?
XM_011519843.1:c.760dup	XP_011518145.1:p.Arg254LysfsTer?
XR_428838.2:n.766dup
XR_930843.1:n.766dup
XM_011519842.3:c.760dup	XP_011518144.1:p.Arg254LysfsTer?
XM_024448325.1:c.760dup	XP_024304093.1:p.Arg254LysfsTer?
XM_024448326.1:c.760dup	XP_024304094.1:p.Arg254LysfsTer?
XM_024448327.1:c.760dup	XP_024304095.1:p.Arg254LysfsTer?
NM_001367390.1:c.34dup	NP_001354319.1:p.Arg12LysfsTer?
NM_021008.4:c.760dup MANE Select	NP_066288.2:p.Arg254LysfsTer?