Canonical Allele Identifier: CA2782619717
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.452161_452162del , CM000671.2:g.452161_452162del GRCh38
NC_000009.11:g.452161_452162del , CM000671.1:g.452161_452162del GRCh37
NC_000009.10:g.442161_442162del NCBI36
NG_017007.1:g.242297_242298del , LRG_196:g.242297_242298del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5768+44_5768+45del ENSP00000371766.2:n.5768+44_5768+45del
ENST00000683406.1:n.2543+44_2543+45del
ENST00000684637.1:n.1749+44_1749+45del
ENST00000685949.1:n.4856+44_4856+45del
ENST00000432829.7:c.6068+44_6068+45del MANE Select ENSP00000394888.3:n.6068+44_6068+45del
ENST00000382329.1:c.4469+44_4469+45del ENSP00000371766.1:n.4469+44_4469+45del
ENST00000432829.6:c.6068+44_6068+45del ENSP00000394888.3:n.6068+44_6068+45del
ENST00000453981.5:c.5864+44_5864+45del ENSP00000408464.2:n.5864+44_5864+45del
ENST00000469391.5:c.5768+44_5768+45del ENSP00000419438.1:n.5768+44_5768+45del
ENST00000495184.5:n.8023+44_8023+45del
NM_001190458.1:c.5768+44_5768+45del NP_001177387.1:n.5768+44_5768+45del
NM_001193536.1:c.5864+44_5864+45del NP_001180465.1:n.5864+44_5864+45del
NM_203447.3:c.6068+44_6068+45del , LRG_196t1:c.6068+44_6068+45del NP_982272.2:n.6068+44_6068+45del
XM_011518045.1:c.5768+44_5768+45del XP_011516347.1:n.5768+44_5768+45del
XM_011518046.1:c.5930+44_5930+45del XP_011516348.1:n.5930+44_5930+45del
XM_011518047.1:c.5864+44_5864+45del XP_011516349.1:n.5864+44_5864+45del
XM_011518048.1:c.5864+44_5864+45del XP_011516350.1:n.5864+44_5864+45del
XM_011518049.1:c.4304+44_4304+45del XP_011516351.1:n.4304+44_4304+45del
XM_011518045.3:c.5768+44_5768+45del XP_011516347.1:n.5768+44_5768+45del
XM_011518046.2:c.5930+44_5930+45del XP_011516348.1:n.5930+44_5930+45del
XM_011518047.3:c.5864+44_5864+45del XP_011516349.1:n.5864+44_5864+45del
XM_011518048.2:c.5864+44_5864+45del XP_011516350.1:n.5864+44_5864+45del
XM_011518049.2:c.4304+44_4304+45del XP_011516351.1:n.4304+44_4304+45del
XM_017015173.1:c.5864+44_5864+45del XP_016870662.1:n.5864+44_5864+45del
XM_017015174.1:c.5930+44_5930+45del XP_016870663.1:n.5930+44_5930+45del
NM_001190458.2:c.5768+44_5768+45del NP_001177387.1:n.5768+44_5768+45del
NM_001193536.2:c.5864+44_5864+45del NP_001180465.1:n.5864+44_5864+45del
NM_203447.4:c.6068+44_6068+45del MANE Select NP_982272.2:n.6068+44_6068+45del