Canonical Allele Identifier: CA378932965

Gene: DEAF1

Linked Data

• MyVariant Identifiers: chr11:g.686994C>G (hg19) ; chr11:g.686994C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686994C>G , CM000673.2:g.686994C>G	GRCh38
NC_000011.9:g.686994C>G , CM000673.1:g.686994C>G	GRCh37
NC_000011.8:g.676994C>G	NCBI36
NG_034156.1:g.13761G>C
NG_034156.2:g.25090G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.553G>C
ENST00000528864.6:n.554G>C
ENST00000529717.6:c.*373G>C	ENSP00000432518.2:n.*373G>C
ENST00000530813.2:c.*291G>C	ENSP00000508507.1:n.*291G>C
ENST00000682936.1:n.428G>C
ENST00000683307.1:c.-59G>C	ENSP00000507198.1:n.-59G>C
ENST00000684249.1:n.856G>C
ENST00000685854.1:c.464G>C	ENSP00000508801.1:p.Gly155Ala
ENST00000686001.1:c.464G>C	ENSP00000508459.1:p.Gly155Ala
ENST00000687329.1:c.464G>C	ENSP00000510598.1:p.Gly155Ala
ENST00000689835.1:c.464G>C	ENSP00000510621.1:p.Gly155Ala
ENST00000690068.1:c.464G>C	ENSP00000509089.1:p.Gly155Ala
ENST00000692634.1:c.464G>C	ENSP00000508859.1:p.Gly155Ala
ENST00000693164.1:n.662G>C
ENST00000382409.4:c.668G>C MANE Select	ENSP00000371846.3:p.Gly223Ala
ENST00000382409.3:c.668G>C	ENSP00000371846.3:p.Gly223Ala
ENST00000525626.5:n.523G>C
ENST00000527170.5:c.30G>C
ENST00000528864.5:n.535G>C
ENST00000529717.5:c.632G>C
NM_001293634.1:c.664+917G>C	NP_001280563.1:n.664+917G>C
NM_021008.3:c.668G>C	NP_066288.2:p.Gly223Ala
XM_011519842.1:c.668G>C	XP_011518144.1:p.Gly223Ala
XM_011519843.1:c.668G>C	XP_011518145.1:p.Gly223Ala
XR_428838.2:n.674G>C
XR_930843.1:n.674G>C
XM_011519842.3:c.668G>C	XP_011518144.1:p.Gly223Ala
XM_024448325.1:c.668G>C	XP_024304093.1:p.Gly223Ala
XM_024448326.1:c.668G>C	XP_024304094.1:p.Gly223Ala
XM_024448327.1:c.668G>C	XP_024304095.1:p.Gly223Ala
NM_001367390.1:c.-59G>C	NP_001354319.1:n.-59G>C
NM_021008.4:c.668G>C MANE Select	NP_066288.2:p.Gly223Ala