Canonical Allele Identifier: CA1120385400
Gene: DOCK8 HGNC NCBI

Linked Data

dbSNP Id: rs2057471355
gnomAD v3: 9-451973-A-ATT
gnomAD v4: 9-451973-A-ATT

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451974_451975insTT , CM000671.2:g.451974_451975insTT GRCh38
NC_000009.11:g.451974_451975insTT , CM000671.1:g.451974_451975insTT GRCh37
NC_000009.10:g.441974_441975insTT NCBI36
NG_017007.1:g.242110_242111insTT , LRG_196:g.242110_242111insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-37_5662-36insTT ENSP00000371766.2:n.5662-37_5662-36insTT
ENST00000683406.1:n.2437-37_2437-36insTT
ENST00000684637.1:n.1643-37_1643-36insTT
ENST00000685949.1:n.4750-37_4750-36insTT
ENST00000432829.7:c.5962-37_5962-36insTT MANE Select ENSP00000394888.3:n.5962-37_5962-36insTT
ENST00000382329.1:c.4363-37_4363-36insTT ENSP00000371766.1:n.4363-37_4363-36insTT
ENST00000432829.6:c.5962-37_5962-36insTT ENSP00000394888.3:n.5962-37_5962-36insTT
ENST00000453981.5:c.5758-37_5758-36insTT ENSP00000408464.2:n.5758-37_5758-36insTT
ENST00000469391.5:c.5662-37_5662-36insTT ENSP00000419438.1:n.5662-37_5662-36insTT
ENST00000495184.5:n.7917-37_7917-36insTT
NM_001190458.1:c.5662-37_5662-36insTT NP_001177387.1:n.5662-37_5662-36insTT
NM_001193536.1:c.5758-37_5758-36insTT NP_001180465.1:n.5758-37_5758-36insTT
NM_203447.3:c.5962-37_5962-36insTT , LRG_196t1:c.5962-37_5962-36insTT NP_982272.2:n.5962-37_5962-36insTT
XM_011518045.1:c.5662-37_5662-36insTT XP_011516347.1:n.5662-37_5662-36insTT
XM_011518046.1:c.5824-37_5824-36insTT XP_011516348.1:n.5824-37_5824-36insTT
XM_011518047.1:c.5758-37_5758-36insTT XP_011516349.1:n.5758-37_5758-36insTT
XM_011518048.1:c.5758-37_5758-36insTT XP_011516350.1:n.5758-37_5758-36insTT
XM_011518049.1:c.4198-37_4198-36insTT XP_011516351.1:n.4198-37_4198-36insTT
XM_011518045.3:c.5662-37_5662-36insTT XP_011516347.1:n.5662-37_5662-36insTT
XM_011518046.2:c.5824-37_5824-36insTT XP_011516348.1:n.5824-37_5824-36insTT
XM_011518047.3:c.5758-37_5758-36insTT XP_011516349.1:n.5758-37_5758-36insTT
XM_011518048.2:c.5758-37_5758-36insTT XP_011516350.1:n.5758-37_5758-36insTT
XM_011518049.2:c.4198-37_4198-36insTT XP_011516351.1:n.4198-37_4198-36insTT
XM_017015173.1:c.5758-37_5758-36insTT XP_016870662.1:n.5758-37_5758-36insTT
XM_017015174.1:c.5824-37_5824-36insTT XP_016870663.1:n.5824-37_5824-36insTT
NM_001190458.2:c.5662-37_5662-36insTT NP_001177387.1:n.5662-37_5662-36insTT
NM_001193536.2:c.5758-37_5758-36insTT NP_001180465.1:n.5758-37_5758-36insTT
NM_203447.4:c.5962-37_5962-36insTT MANE Select NP_982272.2:n.5962-37_5962-36insTT