Canonical Allele Identifier: CA2573147084

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 1460463
• ClinVar RCV Id: RCV001963315
• dbSNP Id: rs2133402124

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686868dup , CM000673.2:g.686868dup	GRCh38
NC_000011.9:g.686868dup , CM000673.1:g.686868dup	GRCh37
NC_000011.8:g.676868dup	NCBI36
NG_034156.1:g.13887dup
NG_034156.2:g.25216dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.679dup
ENST00000528864.6:n.680dup
ENST00000530813.2:c.*417dup	ENSP00000508507.1:n.*417dup
ENST00000682936.1:n.554dup
ENST00000683307.1:c.68dup	ENSP00000507198.1:p.Cys23TrpfsTer?
ENST00000684249.1:n.982dup
ENST00000685854.1:c.590dup	ENSP00000508801.1:p.Cys197TrpfsTer?
ENST00000686001.1:c.590dup	ENSP00000508459.1:p.Cys197TrpfsTer?
ENST00000687329.1:c.590dup	ENSP00000510598.1:p.Cys197TrpfsTer?
ENST00000689835.1:c.590dup	ENSP00000510621.1:p.Cys197TrpfsTer?
ENST00000690068.1:c.590dup	ENSP00000509089.1:p.Cys197TrpfsTer?
ENST00000692634.1:c.590dup	ENSP00000508859.1:p.Cys197TrpfsTer?
ENST00000693164.1:n.788dup
ENST00000382409.4:c.794dup MANE Select	ENSP00000371846.3:p.Cys265TrpfsTer?
ENST00000382409.3:c.794dup	ENSP00000371846.3:p.Cys265TrpfsTer?
ENST00000527170.5:c.156dup
NM_001293634.1:c.664+1043dup	NP_001280563.1:n.664+1043dup
NM_021008.3:c.794dup	NP_066288.2:p.Cys265TrpfsTer?
XM_011519842.1:c.794dup	XP_011518144.1:p.Cys265TrpfsTer?
XM_011519843.1:c.794dup	XP_011518145.1:p.Cys265TrpfsTer?
XR_428838.2:n.800dup
XR_930843.1:n.800dup
XM_011519842.3:c.794dup	XP_011518144.1:p.Cys265TrpfsTer?
XM_024448325.1:c.794dup	XP_024304093.1:p.Cys265TrpfsTer?
XM_024448326.1:c.794dup	XP_024304094.1:p.Cys265TrpfsTer?
XM_024448327.1:c.794dup	XP_024304095.1:p.Cys265TrpfsTer?
NM_001367390.1:c.68dup	NP_001354319.1:p.Cys23TrpfsTer?
NM_021008.4:c.794dup MANE Select	NP_066288.2:p.Cys265TrpfsTer?