Canonical Allele Identifier: CA16619390

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 422379
• ClinVar RCV Id: RCV000487400
• dbSNP Id: rs1064795740
• MyVariant Identifiers: chr11:g.686898_686900del (hg19) ; chr11:g.686898_686900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686901_686903del , CM000673.2:g.686901_686903del	GRCh38
NC_000011.9:g.686901_686903del , CM000673.1:g.686901_686903del	GRCh37
NC_000011.8:g.676901_676903del	NCBI36
NG_034156.1:g.13855_13857del
NG_034156.2:g.25184_25186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.647_649del
ENST00000528864.6:n.648_650del
ENST00000530813.2:c.*385_*387del	ENSP00000508507.1:n.*385_*387del
ENST00000682936.1:n.522_524del
ENST00000683307.1:c.36_38del	ENSP00000507198.1:p.Arg12del
ENST00000684249.1:n.950_952del
ENST00000685854.1:c.558_560del	ENSP00000508801.1:p.Arg186del
ENST00000686001.1:c.558_560del	ENSP00000508459.1:p.Arg186del
ENST00000687329.1:c.558_560del	ENSP00000510598.1:p.Arg186del
ENST00000689835.1:c.558_560del	ENSP00000510621.1:p.Arg186del
ENST00000690068.1:c.558_560del	ENSP00000509089.1:p.Arg186del
ENST00000692634.1:c.558_560del	ENSP00000508859.1:p.Arg186del
ENST00000693164.1:n.756_758del
ENST00000382409.4:c.762_764del MANE Select	ENSP00000371846.3:p.Arg254del
ENST00000382409.3:c.762_764del	ENSP00000371846.3:p.Arg254del
ENST00000527170.5:c.124_126del
NM_001293634.1:c.664+1011_664+1013del	NP_001280563.1:n.664+1011_664+1013del
NM_021008.3:c.762_764del	NP_066288.2:p.Arg254del
XM_011519842.1:c.762_764del	XP_011518144.1:p.Arg254del
XM_011519843.1:c.762_764del	XP_011518145.1:p.Arg254del
XR_428838.2:n.768_770del
XR_930843.1:n.768_770del
XM_011519842.3:c.762_764del	XP_011518144.1:p.Arg254del
XM_024448325.1:c.762_764del	XP_024304093.1:p.Arg254del
XM_024448326.1:c.762_764del	XP_024304094.1:p.Arg254del
XM_024448327.1:c.762_764del	XP_024304095.1:p.Arg254del
NM_001367390.1:c.36_38del	NP_001354319.1:p.Arg12del
NM_021008.4:c.762_764del MANE Select	NP_066288.2:p.Arg254del