Canonical Allele Identifier: CA16042690
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.304607_304608delinsTT , CM000671.2:g.304607_304608delinsTT GRCh38
NC_000009.11:g.304607_304608delinsTT , CM000671.1:g.304607_304608delinsTT GRCh37
NC_000009.10:g.294607_294608delinsTT NCBI36
NG_017007.1:g.94743_94744delinsTT , LRG_196:g.94743_94744delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.227_228delinsTT ENSP00000371766.2:p.Gly76Val
ENST00000483757.6:c.227_228delinsTT ENSP00000417691.2:p.Gly76Val
ENST00000682249.1:c.227_228delinsTT ENSP00000507731.1:p.Gly76Val
ENST00000684384.1:n.540_541delinsTT
ENST00000432829.7:c.431_432delinsTT MANE Select ENSP00000394888.3:p.Gly144Val
ENST00000382341.5:n.326_327delinsTT
ENST00000432829.6:c.431_432delinsTT ENSP00000394888.3:p.Gly144Val
ENST00000453981.5:c.227_228delinsTT ENSP00000408464.2:p.Gly76Val
ENST00000454469.6:n.540_541delinsTT
ENST00000469391.5:c.227_228delinsTT ENSP00000419438.1:p.Gly76Val
ENST00000478380.5:n.310_311delinsTT
ENST00000483757.5:c.227_228delinsTT ENSP00000417691.1:p.Gly76Val
ENST00000487230.5:c.227_228delinsTT ENSP00000418318.1:p.Gly76Val
ENST00000495184.5:n.292_293delinsTT
ENST00000524396.5:c.*394_*395delinsTT ENSP00000436628.1:n.*394_*395delinsTT
NM_001190458.1:c.227_228delinsTT NP_001177387.1:p.Gly76Val
NM_001193536.1:c.227_228delinsTT NP_001180465.1:p.Gly76Val
NM_203447.3:c.431_432delinsTT , LRG_196t1:c.431_432delinsTT NP_982272.2:p.Gly144Val
XM_011518045.1:c.227_228delinsTT XP_011516347.1:p.Gly76Val
XM_011518046.1:c.293_294delinsTT XP_011516348.1:p.Gly98Val
XM_011518047.1:c.227_228delinsTT XP_011516349.1:p.Gly76Val
XM_011518048.1:c.227_228delinsTT XP_011516350.1:p.Gly76Val
XM_011518045.3:c.227_228delinsTT XP_011516347.1:p.Gly76Val
XM_011518046.2:c.293_294delinsTT XP_011516348.1:p.Gly98Val
XM_011518047.3:c.227_228delinsTT XP_011516349.1:p.Gly76Val
XM_011518048.2:c.227_228delinsTT XP_011516350.1:p.Gly76Val
XM_017015173.1:c.227_228delinsTT XP_016870662.1:p.Gly76Val
XM_017015174.1:c.293_294delinsTT XP_016870663.1:p.Gly98Val
NM_001190458.2:c.227_228delinsTT NP_001177387.1:p.Gly76Val
NM_001193536.2:c.227_228delinsTT NP_001180465.1:p.Gly76Val
NM_203447.4:c.431_432delinsTT MANE Select NP_982272.2:p.Gly144Val