Canonical Allele Identifier: CA378931899
Gene: DEAF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.686884C>T , CM000673.2:g.686884C>T GRCh38
NC_000011.9:g.686884C>T , CM000673.1:g.686884C>T GRCh37
NC_000011.8:g.676884C>T NCBI36
NG_034156.1:g.13871G>A
NG_034156.2:g.25200G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525626.6:n.663G>A
ENST00000528864.6:n.664G>A
ENST00000530813.2:c.*401G>A ENSP00000508507.1:n.*401G>A
ENST00000682936.1:n.538G>A
ENST00000683307.1:c.52G>A ENSP00000507198.1:p.Gly18Ser
ENST00000684249.1:n.966G>A
ENST00000685854.1:c.574G>A ENSP00000508801.1:p.Gly192Ser
ENST00000686001.1:c.574G>A ENSP00000508459.1:p.Gly192Ser
ENST00000687329.1:c.574G>A ENSP00000510598.1:p.Gly192Ser
ENST00000689835.1:c.574G>A ENSP00000510621.1:p.Gly192Ser
ENST00000690068.1:c.574G>A ENSP00000509089.1:p.Gly192Ser
ENST00000692634.1:c.574G>A ENSP00000508859.1:p.Gly192Ser
ENST00000693164.1:n.772G>A
ENST00000382409.4:c.778G>A MANE Select ENSP00000371846.3:p.Gly260Ser
ENST00000382409.3:c.778G>A ENSP00000371846.3:p.Gly260Ser
ENST00000527170.5:c.140G>A
NM_001293634.1:c.664+1027G>A NP_001280563.1:n.664+1027G>A
NM_021008.3:c.778G>A NP_066288.2:p.Gly260Ser
XM_011519842.1:c.778G>A XP_011518144.1:p.Gly260Ser
XM_011519843.1:c.778G>A XP_011518145.1:p.Gly260Ser
XR_428838.2:n.784G>A
XR_930843.1:n.784G>A
XM_011519842.3:c.778G>A XP_011518144.1:p.Gly260Ser
XM_024448325.1:c.778G>A XP_024304093.1:p.Gly260Ser
XM_024448326.1:c.778G>A XP_024304094.1:p.Gly260Ser
XM_024448327.1:c.778G>A XP_024304095.1:p.Gly260Ser
NM_001367390.1:c.52G>A NP_001354319.1:p.Gly18Ser
NM_021008.4:c.778G>A MANE Select NP_066288.2:p.Gly260Ser