Canonical Allele Identifier: CA1947253064
Gene: DEAF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.686971_686973delinsCCT , CM000673.2:g.686971_686973delinsCCT GRCh38
NC_000011.9:g.686971_686973delinsCCT , CM000673.1:g.686971_686973delinsCCT GRCh37
NC_000011.8:g.676971_676973delinsCCT NCBI36
NG_034156.1:g.13782_13784delinsAGG
NG_034156.2:g.25111_25113delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000525626.6:n.574_576delinsAGG
ENST00000528864.6:n.575_577delinsAGG
ENST00000529717.6:c.*394_*396delinsAGG ENSP00000432518.2:n.*394_*396delinsAGG
ENST00000530813.2:c.*312_*314delinsAGG ENSP00000508507.1:n.*312_*314delinsAGG
ENST00000682936.1:n.449_451delinsAGG
ENST00000683307.1:c.-38_-36delinsAGG ENSP00000507198.1:n.-38_-36delinsAGG
ENST00000684249.1:n.877_879delinsAGG
ENST00000685854.1:c.485_487delinsAGG ENSP00000508801.1:p.Gln162=
ENST00000686001.1:c.485_487delinsAGG ENSP00000508459.1:p.Gln162=
ENST00000687329.1:c.485_487delinsAGG ENSP00000510598.1:p.Gln162=
ENST00000689835.1:c.485_487delinsAGG ENSP00000510621.1:p.Gln162=
ENST00000690068.1:c.485_487delinsAGG ENSP00000509089.1:p.Gln162=
ENST00000692634.1:c.485_487delinsAGG ENSP00000508859.1:p.Gln162=
ENST00000693164.1:n.683_685delinsAGG
ENST00000382409.4:c.689_691delinsAGG MANE Select ENSP00000371846.3:p.Gln230=
ENST00000382409.3:c.689_691delinsAGG ENSP00000371846.3:p.Gln230=
ENST00000525626.5:n.544_546delinsAGG
ENST00000527170.5:c.51_53delinsAGG
ENST00000529717.5:c.653_655delinsAGG
NM_001293634.1:c.664+938_664+940delinsAGG NP_001280563.1:n.664+938_664+940delinsAGG
NM_021008.3:c.689_691delinsAGG NP_066288.2:p.Gln230=
XM_011519842.1:c.689_691delinsAGG XP_011518144.1:p.Gln230=
XM_011519843.1:c.689_691delinsAGG XP_011518145.1:p.Gln230=
XR_428838.2:n.695_697delinsAGG
XR_930843.1:n.695_697delinsAGG
XM_011519842.3:c.689_691delinsAGG XP_011518144.1:p.Gln230=
XM_024448325.1:c.689_691delinsAGG XP_024304093.1:p.Gln230=
XM_024448326.1:c.689_691delinsAGG XP_024304094.1:p.Gln230=
XM_024448327.1:c.689_691delinsAGG XP_024304095.1:p.Gln230=
NM_001367390.1:c.-38_-36delinsAGG NP_001354319.1:n.-38_-36delinsAGG
NM_021008.4:c.689_691delinsAGG MANE Select NP_066288.2:p.Gln230=