Canonical Allele Identifier: CA918393926
Gene: DOCK8 HGNC NCBI

Linked Data

dbSNP Id: rs1564085224
gnomAD v4: 9-451945-G-GTT

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451946_451947insTT , CM000671.2:g.451946_451947insTT GRCh38
NC_000009.11:g.451946_451947insTT , CM000671.1:g.451946_451947insTT GRCh37
NC_000009.10:g.441946_441947insTT NCBI36
NG_017007.1:g.242082_242083insTT , LRG_196:g.242082_242083insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-65_5662-64insTT ENSP00000371766.2:n.5662-65_5662-64insTT
ENST00000683406.1:n.2437-65_2437-64insTT
ENST00000684637.1:n.1643-65_1643-64insTT
ENST00000685949.1:n.4750-65_4750-64insTT
ENST00000432829.7:c.5962-65_5962-64insTT MANE Select ENSP00000394888.3:n.5962-65_5962-64insTT
ENST00000382329.1:c.4363-65_4363-64insTT ENSP00000371766.1:n.4363-65_4363-64insTT
ENST00000432829.6:c.5962-65_5962-64insTT ENSP00000394888.3:n.5962-65_5962-64insTT
ENST00000453981.5:c.5758-65_5758-64insTT ENSP00000408464.2:n.5758-65_5758-64insTT
ENST00000469391.5:c.5662-65_5662-64insTT ENSP00000419438.1:n.5662-65_5662-64insTT
ENST00000495184.5:n.7917-65_7917-64insTT
NM_001190458.1:c.5662-65_5662-64insTT NP_001177387.1:n.5662-65_5662-64insTT
NM_001193536.1:c.5758-65_5758-64insTT NP_001180465.1:n.5758-65_5758-64insTT
NM_203447.3:c.5962-65_5962-64insTT , LRG_196t1:c.5962-65_5962-64insTT NP_982272.2:n.5962-65_5962-64insTT
XM_011518045.1:c.5662-65_5662-64insTT XP_011516347.1:n.5662-65_5662-64insTT
XM_011518046.1:c.5824-65_5824-64insTT XP_011516348.1:n.5824-65_5824-64insTT
XM_011518047.1:c.5758-65_5758-64insTT XP_011516349.1:n.5758-65_5758-64insTT
XM_011518048.1:c.5758-65_5758-64insTT XP_011516350.1:n.5758-65_5758-64insTT
XM_011518049.1:c.4198-65_4198-64insTT XP_011516351.1:n.4198-65_4198-64insTT
XM_011518045.3:c.5662-65_5662-64insTT XP_011516347.1:n.5662-65_5662-64insTT
XM_011518046.2:c.5824-65_5824-64insTT XP_011516348.1:n.5824-65_5824-64insTT
XM_011518047.3:c.5758-65_5758-64insTT XP_011516349.1:n.5758-65_5758-64insTT
XM_011518048.2:c.5758-65_5758-64insTT XP_011516350.1:n.5758-65_5758-64insTT
XM_011518049.2:c.4198-65_4198-64insTT XP_011516351.1:n.4198-65_4198-64insTT
XM_017015173.1:c.5758-65_5758-64insTT XP_016870662.1:n.5758-65_5758-64insTT
XM_017015174.1:c.5824-65_5824-64insTT XP_016870663.1:n.5824-65_5824-64insTT
NM_001190458.2:c.5662-65_5662-64insTT NP_001177387.1:n.5662-65_5662-64insTT
NM_001193536.2:c.5758-65_5758-64insTT NP_001180465.1:n.5758-65_5758-64insTT
NM_203447.4:c.5962-65_5962-64insTT MANE Select NP_982272.2:n.5962-65_5962-64insTT