Canonical Allele Identifier: CA679574164

Gene: DEAF1

Linked Data

• dbSNP Id: rs1348277835
• MyVariant Identifiers: chr11:g.686726_686727insCAGACAG (hg19) ; chr11:g.686726_686727insCAGACAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686730_686736dup , CM000673.2:g.686730_686736dup	GRCh38
NC_000011.9:g.686730_686736dup , CM000673.1:g.686730_686736dup	GRCh37
NC_000011.8:g.676730_676736dup	NCBI36
NG_034156.1:g.14022_14028dup
NG_034156.2:g.25351_25357dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.689+125_689+131dup
ENST00000528864.6:n.690+125_690+131dup
ENST00000530813.2:c.*427+125_*427+131dup	ENSP00000508507.1:n.*427+125_*427+131dup
ENST00000682936.1:n.564+125_564+131dup
ENST00000683307.1:c.78+125_78+131dup	ENSP00000507198.1:n.78+125_78+131dup
ENST00000684249.1:n.992+125_992+131dup
ENST00000685854.1:c.600+125_600+131dup	ENSP00000508801.1:n.600+125_600+131dup
ENST00000686001.1:c.600+125_600+131dup	ENSP00000508459.1:n.600+125_600+131dup
ENST00000687329.1:c.600+125_600+131dup	ENSP00000510598.1:n.600+125_600+131dup
ENST00000689835.1:c.600+125_600+131dup	ENSP00000510621.1:n.600+125_600+131dup
ENST00000690068.1:c.600+125_600+131dup	ENSP00000509089.1:n.600+125_600+131dup
ENST00000692634.1:c.600+125_600+131dup	ENSP00000508859.1:n.600+125_600+131dup
ENST00000693164.1:n.798+125_798+131dup
ENST00000382409.4:c.804+125_804+131dup MANE Select	ENSP00000371846.3:n.804+125_804+131dup
ENST00000382409.3:c.804+125_804+131dup	ENSP00000371846.3:n.804+125_804+131dup
ENST00000527170.5:c.166+125_166+131dup
NM_001293634.1:c.664+1178_664+1184dup	NP_001280563.1:n.664+1178_664+1184dup
NM_021008.3:c.804+125_804+131dup	NP_066288.2:n.804+125_804+131dup
XM_011519842.1:c.804+125_804+131dup	XP_011518144.1:n.804+125_804+131dup
XM_011519843.1:c.804+125_804+131dup	XP_011518145.1:n.804+125_804+131dup
XR_428838.2:n.810+125_810+131dup
XR_930843.1:n.810+125_810+131dup
XM_011519842.3:c.804+125_804+131dup	XP_011518144.1:n.804+125_804+131dup
XM_024448325.1:c.804+125_804+131dup	XP_024304093.1:n.804+125_804+131dup
XM_024448326.1:c.804+125_804+131dup	XP_024304094.1:n.804+125_804+131dup
XM_024448327.1:c.804+125_804+131dup	XP_024304095.1:n.804+125_804+131dup
NM_001367390.1:c.78+125_78+131dup	NP_001354319.1:n.78+125_78+131dup
NM_021008.4:c.804+125_804+131dup MANE Select	NP_066288.2:n.804+125_804+131dup