Canonical Allele Identifier: CA1947252910
Gene: DEAF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.686687_686688delinsAC , CM000673.2:g.686687_686688delinsAC GRCh38
NC_000011.9:g.686687_686688delinsAC , CM000673.1:g.686687_686688delinsAC GRCh37
NC_000011.8:g.676687_676688delinsAC NCBI36
NG_034156.1:g.14067_14068delinsGT
NG_034156.2:g.25396_25397delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000525626.6:n.689+170_689+171delinsGT
ENST00000528864.6:n.690+170_690+171delinsGT
ENST00000530813.2:c.*427+170_*427+171delinsGT ENSP00000508507.1:n.*427+170_*427+171delinsGT
ENST00000682936.1:n.564+170_564+171delinsGT
ENST00000683307.1:c.78+170_78+171delinsGT ENSP00000507198.1:n.78+170_78+171delinsGT
ENST00000684249.1:n.992+170_992+171delinsGT
ENST00000685854.1:c.600+170_600+171delinsGT ENSP00000508801.1:n.600+170_600+171delinsGT
ENST00000686001.1:c.600+170_600+171delinsGT ENSP00000508459.1:n.600+170_600+171delinsGT
ENST00000687329.1:c.600+170_600+171delinsGT ENSP00000510598.1:n.600+170_600+171delinsGT
ENST00000689835.1:c.600+170_600+171delinsGT ENSP00000510621.1:n.600+170_600+171delinsGT
ENST00000690068.1:c.600+170_600+171delinsGT ENSP00000509089.1:n.600+170_600+171delinsGT
ENST00000692634.1:c.600+170_600+171delinsGT ENSP00000508859.1:n.600+170_600+171delinsGT
ENST00000693164.1:n.798+170_798+171delinsGT
ENST00000382409.4:c.804+170_804+171delinsGT MANE Select ENSP00000371846.3:n.804+170_804+171delinsGT
ENST00000382409.3:c.804+170_804+171delinsGT ENSP00000371846.3:n.804+170_804+171delinsGT
ENST00000527170.5:c.166+170_166+171delinsGT
NM_001293634.1:c.664+1223_664+1224delinsGT NP_001280563.1:n.664+1223_664+1224delinsGT
NM_021008.3:c.804+170_804+171delinsGT NP_066288.2:n.804+170_804+171delinsGT
XM_011519842.1:c.804+170_804+171delinsGT XP_011518144.1:n.804+170_804+171delinsGT
XM_011519843.1:c.804+170_804+171delinsGT XP_011518145.1:n.804+170_804+171delinsGT
XR_428838.2:n.810+170_810+171delinsGT
XR_930843.1:n.810+170_810+171delinsGT
XM_011519842.3:c.804+170_804+171delinsGT XP_011518144.1:n.804+170_804+171delinsGT
XM_024448325.1:c.804+170_804+171delinsGT XP_024304093.1:n.804+170_804+171delinsGT
XM_024448326.1:c.804+170_804+171delinsGT XP_024304094.1:n.804+170_804+171delinsGT
XM_024448327.1:c.804+170_804+171delinsGT XP_024304095.1:n.804+170_804+171delinsGT
NM_001367390.1:c.78+170_78+171delinsGT NP_001354319.1:n.78+170_78+171delinsGT
NM_021008.4:c.804+170_804+171delinsGT MANE Select NP_066288.2:n.804+170_804+171delinsGT