Canonical Allele Identifier: CA2689211586
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-451993-T-TC

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451993_451994insC , CM000671.2:g.451993_451994insC GRCh38
NC_000009.11:g.451993_451994insC , CM000671.1:g.451993_451994insC GRCh37
NC_000009.10:g.441993_441994insC NCBI36
NG_017007.1:g.242129_242130insC , LRG_196:g.242129_242130insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-18_5662-17insC ENSP00000371766.2:n.5662-18_5662-17insC
ENST00000683406.1:n.2437-18_2437-17insC
ENST00000684637.1:n.1643-18_1643-17insC
ENST00000685949.1:n.4750-18_4750-17insC
ENST00000432829.7:c.5962-18_5962-17insC MANE Select ENSP00000394888.3:n.5962-18_5962-17insC
ENST00000382329.1:c.4363-18_4363-17insC ENSP00000371766.1:n.4363-18_4363-17insC
ENST00000432829.6:c.5962-18_5962-17insC ENSP00000394888.3:n.5962-18_5962-17insC
ENST00000453981.5:c.5758-18_5758-17insC ENSP00000408464.2:n.5758-18_5758-17insC
ENST00000469391.5:c.5662-18_5662-17insC ENSP00000419438.1:n.5662-18_5662-17insC
ENST00000495184.5:n.7917-18_7917-17insC
NM_001190458.1:c.5662-18_5662-17insC NP_001177387.1:n.5662-18_5662-17insC
NM_001193536.1:c.5758-18_5758-17insC NP_001180465.1:n.5758-18_5758-17insC
NM_203447.3:c.5962-18_5962-17insC , LRG_196t1:c.5962-18_5962-17insC NP_982272.2:n.5962-18_5962-17insC
XM_011518045.1:c.5662-18_5662-17insC XP_011516347.1:n.5662-18_5662-17insC
XM_011518046.1:c.5824-18_5824-17insC XP_011516348.1:n.5824-18_5824-17insC
XM_011518047.1:c.5758-18_5758-17insC XP_011516349.1:n.5758-18_5758-17insC
XM_011518048.1:c.5758-18_5758-17insC XP_011516350.1:n.5758-18_5758-17insC
XM_011518049.1:c.4198-18_4198-17insC XP_011516351.1:n.4198-18_4198-17insC
XM_011518045.3:c.5662-18_5662-17insC XP_011516347.1:n.5662-18_5662-17insC
XM_011518046.2:c.5824-18_5824-17insC XP_011516348.1:n.5824-18_5824-17insC
XM_011518047.3:c.5758-18_5758-17insC XP_011516349.1:n.5758-18_5758-17insC
XM_011518048.2:c.5758-18_5758-17insC XP_011516350.1:n.5758-18_5758-17insC
XM_011518049.2:c.4198-18_4198-17insC XP_011516351.1:n.4198-18_4198-17insC
XM_017015173.1:c.5758-18_5758-17insC XP_016870662.1:n.5758-18_5758-17insC
XM_017015174.1:c.5824-18_5824-17insC XP_016870663.1:n.5824-18_5824-17insC
NM_001190458.2:c.5662-18_5662-17insC NP_001177387.1:n.5662-18_5662-17insC
NM_001193536.2:c.5758-18_5758-17insC NP_001180465.1:n.5758-18_5758-17insC
NM_203447.4:c.5962-18_5962-17insC MANE Select NP_982272.2:n.5962-18_5962-17insC