Canonical Allele Identifier: CA3003931552

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686865dup , CM000673.2:g.686865dup	GRCh38
NC_000011.9:g.686865dup , CM000673.1:g.686865dup	GRCh37
NC_000011.8:g.676865dup	NCBI36
NG_034156.1:g.13890dup
NG_034156.2:g.25219dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.682dup
ENST00000528864.6:n.683dup
ENST00000530813.2:c.*420dup	ENSP00000508507.1:n.*420dup
ENST00000682936.1:n.557dup
ENST00000683307.1:c.71dup	ENSP00000507198.1:p.Ile25HisfsTer?
ENST00000684249.1:n.985dup
ENST00000685854.1:c.593dup	ENSP00000508801.1:p.Ile199HisfsTer?
ENST00000686001.1:c.593dup	ENSP00000508459.1:p.Ile199HisfsTer?
ENST00000687329.1:c.593dup	ENSP00000510598.1:p.Ile199HisfsTer?
ENST00000689835.1:c.593dup	ENSP00000510621.1:p.Ile199HisfsTer?
ENST00000690068.1:c.593dup	ENSP00000509089.1:p.Ile199HisfsTer?
ENST00000692634.1:c.593dup	ENSP00000508859.1:p.Ile199HisfsTer?
ENST00000693164.1:n.791dup
ENST00000382409.4:c.797dup MANE Select	ENSP00000371846.3:p.Ile267HisfsTer?
ENST00000382409.3:c.797dup	ENSP00000371846.3:p.Ile267HisfsTer?
ENST00000527170.5:c.159dup
NM_001293634.1:c.664+1046dup	NP_001280563.1:n.664+1046dup
NM_021008.3:c.797dup	NP_066288.2:p.Ile267HisfsTer?
XM_011519842.1:c.797dup	XP_011518144.1:p.Ile267HisfsTer?
XM_011519843.1:c.797dup	XP_011518145.1:p.Ile267HisfsTer?
XR_428838.2:n.803dup
XR_930843.1:n.803dup
XM_011519842.3:c.797dup	XP_011518144.1:p.Ile267HisfsTer?
XM_024448325.1:c.797dup	XP_024304093.1:p.Ile267HisfsTer?
XM_024448326.1:c.797dup	XP_024304094.1:p.Ile267HisfsTer?
XM_024448327.1:c.797dup	XP_024304095.1:p.Ile267HisfsTer?
NM_001367390.1:c.71dup	NP_001354319.1:p.Ile25HisfsTer?
NM_021008.4:c.797dup MANE Select	NP_066288.2:p.Ile267HisfsTer?