Canonical Allele Identifier: CA2697559015

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 2761468
• ClinVar RCV Id: RCV003567631

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686882del , CM000673.2:g.686882del	GRCh38
NC_000011.9:g.686882del , CM000673.1:g.686882del	GRCh37
NC_000011.8:g.676882del	NCBI36
NG_034156.1:g.13874del
NG_034156.2:g.25203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.666del
ENST00000528864.6:n.667del
ENST00000530813.2:c.*404del	ENSP00000508507.1:n.*404del
ENST00000682936.1:n.541del
ENST00000683307.1:c.55del	ENSP00000507198.1:p.Arg19AspfsTer12
ENST00000684249.1:n.969del
ENST00000685854.1:c.577del	ENSP00000508801.1:p.Arg193AspfsTer12
ENST00000686001.1:c.577del	ENSP00000508459.1:p.Arg193AspfsTer12
ENST00000687329.1:c.577del	ENSP00000510598.1:p.Arg193AspfsTer12
ENST00000689835.1:c.577del	ENSP00000510621.1:p.Arg193AspfsTer12
ENST00000690068.1:c.577del	ENSP00000509089.1:p.Arg193AspfsTer12
ENST00000692634.1:c.577del	ENSP00000508859.1:p.Arg193AspfsTer12
ENST00000693164.1:n.775del
ENST00000382409.4:c.781del MANE Select	ENSP00000371846.3:p.Arg261AspfsTer12
ENST00000382409.3:c.781del	ENSP00000371846.3:p.Arg261AspfsTer12
ENST00000527170.5:c.143del
NM_001293634.1:c.664+1030del	NP_001280563.1:n.664+1030del
NM_021008.3:c.781del	NP_066288.2:p.Arg261AspfsTer12
XM_011519842.1:c.781del	XP_011518144.1:p.Arg261AspfsTer12
XM_011519843.1:c.781del	XP_011518145.1:p.Arg261AspfsTer12
XR_428838.2:n.787del
XR_930843.1:n.787del
XM_011519842.3:c.781del	XP_011518144.1:p.Arg261AspfsTer12
XM_024448325.1:c.781del	XP_024304093.1:p.Arg261AspfsTer12
XM_024448326.1:c.781del	XP_024304094.1:p.Arg261AspfsTer12
XM_024448327.1:c.781del	XP_024304095.1:p.Arg261AspfsTer12
NM_001367390.1:c.55del	NP_001354319.1:p.Arg19AspfsTer12
NM_021008.4:c.781del MANE Select	NP_066288.2:p.Arg261AspfsTer12