Canonical Allele Identifier: CA2689211278
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-451880-T-TG

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451880_451881insG , CM000671.2:g.451880_451881insG GRCh38
NC_000009.11:g.451880_451881insG , CM000671.1:g.451880_451881insG GRCh37
NC_000009.10:g.441880_441881insG NCBI36
NG_017007.1:g.242016_242017insG , LRG_196:g.242016_242017insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-131_5662-130insG ENSP00000371766.2:n.5662-131_5662-130insG
ENST00000683406.1:n.2437-131_2437-130insG
ENST00000684637.1:n.1643-131_1643-130insG
ENST00000685949.1:n.4750-131_4750-130insG
ENST00000432829.7:c.5962-131_5962-130insG MANE Select ENSP00000394888.3:n.5962-131_5962-130insG
ENST00000382329.1:c.4363-131_4363-130insG ENSP00000371766.1:n.4363-131_4363-130insG
ENST00000432829.6:c.5962-131_5962-130insG ENSP00000394888.3:n.5962-131_5962-130insG
ENST00000453981.5:c.5758-131_5758-130insG ENSP00000408464.2:n.5758-131_5758-130insG
ENST00000469391.5:c.5662-131_5662-130insG ENSP00000419438.1:n.5662-131_5662-130insG
ENST00000495184.5:n.7917-131_7917-130insG
NM_001190458.1:c.5662-131_5662-130insG NP_001177387.1:n.5662-131_5662-130insG
NM_001193536.1:c.5758-131_5758-130insG NP_001180465.1:n.5758-131_5758-130insG
NM_203447.3:c.5962-131_5962-130insG , LRG_196t1:c.5962-131_5962-130insG NP_982272.2:n.5962-131_5962-130insG
XM_011518045.1:c.5662-131_5662-130insG XP_011516347.1:n.5662-131_5662-130insG
XM_011518046.1:c.5824-131_5824-130insG XP_011516348.1:n.5824-131_5824-130insG
XM_011518047.1:c.5758-131_5758-130insG XP_011516349.1:n.5758-131_5758-130insG
XM_011518048.1:c.5758-131_5758-130insG XP_011516350.1:n.5758-131_5758-130insG
XM_011518049.1:c.4198-131_4198-130insG XP_011516351.1:n.4198-131_4198-130insG
XM_011518045.3:c.5662-131_5662-130insG XP_011516347.1:n.5662-131_5662-130insG
XM_011518046.2:c.5824-131_5824-130insG XP_011516348.1:n.5824-131_5824-130insG
XM_011518047.3:c.5758-131_5758-130insG XP_011516349.1:n.5758-131_5758-130insG
XM_011518048.2:c.5758-131_5758-130insG XP_011516350.1:n.5758-131_5758-130insG
XM_011518049.2:c.4198-131_4198-130insG XP_011516351.1:n.4198-131_4198-130insG
XM_017015173.1:c.5758-131_5758-130insG XP_016870662.1:n.5758-131_5758-130insG
XM_017015174.1:c.5824-131_5824-130insG XP_016870663.1:n.5824-131_5824-130insG
NM_001190458.2:c.5662-131_5662-130insG NP_001177387.1:n.5662-131_5662-130insG
NM_001193536.2:c.5758-131_5758-130insG NP_001180465.1:n.5758-131_5758-130insG
NM_203447.4:c.5962-131_5962-130insG MANE Select NP_982272.2:n.5962-131_5962-130insG