Canonical Allele Identifier: CA2689211469
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-451948-T-TGG

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451949_451950insGG , CM000671.2:g.451949_451950insGG GRCh38
NC_000009.11:g.451949_451950insGG , CM000671.1:g.451949_451950insGG GRCh37
NC_000009.10:g.441949_441950insGG NCBI36
NG_017007.1:g.242085_242086insGG , LRG_196:g.242085_242086insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-62_5662-61insGG ENSP00000371766.2:n.5662-62_5662-61insGG
ENST00000683406.1:n.2437-62_2437-61insGG
ENST00000684637.1:n.1643-62_1643-61insGG
ENST00000685949.1:n.4750-62_4750-61insGG
ENST00000432829.7:c.5962-62_5962-61insGG MANE Select ENSP00000394888.3:n.5962-62_5962-61insGG
ENST00000382329.1:c.4363-62_4363-61insGG ENSP00000371766.1:n.4363-62_4363-61insGG
ENST00000432829.6:c.5962-62_5962-61insGG ENSP00000394888.3:n.5962-62_5962-61insGG
ENST00000453981.5:c.5758-62_5758-61insGG ENSP00000408464.2:n.5758-62_5758-61insGG
ENST00000469391.5:c.5662-62_5662-61insGG ENSP00000419438.1:n.5662-62_5662-61insGG
ENST00000495184.5:n.7917-62_7917-61insGG
NM_001190458.1:c.5662-62_5662-61insGG NP_001177387.1:n.5662-62_5662-61insGG
NM_001193536.1:c.5758-62_5758-61insGG NP_001180465.1:n.5758-62_5758-61insGG
NM_203447.3:c.5962-62_5962-61insGG , LRG_196t1:c.5962-62_5962-61insGG NP_982272.2:n.5962-62_5962-61insGG
XM_011518045.1:c.5662-62_5662-61insGG XP_011516347.1:n.5662-62_5662-61insGG
XM_011518046.1:c.5824-62_5824-61insGG XP_011516348.1:n.5824-62_5824-61insGG
XM_011518047.1:c.5758-62_5758-61insGG XP_011516349.1:n.5758-62_5758-61insGG
XM_011518048.1:c.5758-62_5758-61insGG XP_011516350.1:n.5758-62_5758-61insGG
XM_011518049.1:c.4198-62_4198-61insGG XP_011516351.1:n.4198-62_4198-61insGG
XM_011518045.3:c.5662-62_5662-61insGG XP_011516347.1:n.5662-62_5662-61insGG
XM_011518046.2:c.5824-62_5824-61insGG XP_011516348.1:n.5824-62_5824-61insGG
XM_011518047.3:c.5758-62_5758-61insGG XP_011516349.1:n.5758-62_5758-61insGG
XM_011518048.2:c.5758-62_5758-61insGG XP_011516350.1:n.5758-62_5758-61insGG
XM_011518049.2:c.4198-62_4198-61insGG XP_011516351.1:n.4198-62_4198-61insGG
XM_017015173.1:c.5758-62_5758-61insGG XP_016870662.1:n.5758-62_5758-61insGG
XM_017015174.1:c.5824-62_5824-61insGG XP_016870663.1:n.5824-62_5824-61insGG
NM_001190458.2:c.5662-62_5662-61insGG NP_001177387.1:n.5662-62_5662-61insGG
NM_001193536.2:c.5758-62_5758-61insGG NP_001180465.1:n.5758-62_5758-61insGG
NM_203447.4:c.5962-62_5962-61insGG MANE Select NP_982272.2:n.5962-62_5962-61insGG