Canonical Allele Identifier: CA378932679

Gene: DEAF1

Linked Data

• ClinVar Variation Id: 437398
• ClinVar RCV Id: RCV000515517
• dbSNP Id: rs1057524157
• MyVariant Identifiers: chr11:g.686962A>T (hg19) ; chr11:g.686962A>T (hg38)
• PubMed: PMID:28213671 ; PMID:28940898

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686962A>T , CM000673.2:g.686962A>T	GRCh38
NC_000011.9:g.686962A>T , CM000673.1:g.686962A>T	GRCh37
NC_000011.8:g.676962A>T	NCBI36
NG_034156.1:g.13793T>A
NG_034156.2:g.25122T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525626.6:n.585T>A
ENST00000528864.6:n.586T>A
ENST00000529717.6:c.*405T>A	ENSP00000432518.2:n.*405T>A
ENST00000530813.2:c.*323T>A	ENSP00000508507.1:n.*323T>A
ENST00000682936.1:n.460T>A
ENST00000683307.1:c.-27T>A	ENSP00000507198.1:n.-27T>A
ENST00000684249.1:n.888T>A
ENST00000685854.1:c.496T>A	ENSP00000508801.1:p.Trp166Arg
ENST00000686001.1:c.496T>A	ENSP00000508459.1:p.Trp166Arg
ENST00000687329.1:c.496T>A	ENSP00000510598.1:p.Trp166Arg
ENST00000689835.1:c.496T>A	ENSP00000510621.1:p.Trp166Arg
ENST00000690068.1:c.496T>A	ENSP00000509089.1:p.Trp166Arg
ENST00000692634.1:c.496T>A	ENSP00000508859.1:p.Trp166Arg
ENST00000693164.1:n.694T>A
ENST00000382409.4:c.700T>A MANE Select	ENSP00000371846.3:p.Trp234Arg
ENST00000382409.3:c.700T>A	ENSP00000371846.3:p.Trp234Arg
ENST00000525626.5:n.555T>A
ENST00000527170.5:c.62T>A
ENST00000529717.5:c.664T>A
NM_001293634.1:c.664+949T>A	NP_001280563.1:n.664+949T>A
NM_021008.3:c.700T>A	NP_066288.2:p.Trp234Arg
XM_011519842.1:c.700T>A	XP_011518144.1:p.Trp234Arg
XM_011519843.1:c.700T>A	XP_011518145.1:p.Trp234Arg
XR_428838.2:n.706T>A
XR_930843.1:n.706T>A
XM_011519842.3:c.700T>A	XP_011518144.1:p.Trp234Arg
XM_024448325.1:c.700T>A	XP_024304093.1:p.Trp234Arg
XM_024448326.1:c.700T>A	XP_024304094.1:p.Trp234Arg
XM_024448327.1:c.700T>A	XP_024304095.1:p.Trp234Arg
NM_001367390.1:c.-27T>A	NP_001354319.1:n.-27T>A
NM_021008.4:c.700T>A MANE Select	NP_066288.2:p.Trp234Arg