Canonical Allele Identifier: CA2689211332
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-451899-A-AT

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451899_451900insT , CM000671.2:g.451899_451900insT GRCh38
NC_000009.11:g.451899_451900insT , CM000671.1:g.451899_451900insT GRCh37
NC_000009.10:g.441899_441900insT NCBI36
NG_017007.1:g.242035_242036insT , LRG_196:g.242035_242036insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-112_5662-111insT ENSP00000371766.2:n.5662-112_5662-111insT
ENST00000683406.1:n.2437-112_2437-111insT
ENST00000684637.1:n.1643-112_1643-111insT
ENST00000685949.1:n.4750-112_4750-111insT
ENST00000432829.7:c.5962-112_5962-111insT MANE Select ENSP00000394888.3:n.5962-112_5962-111insT
ENST00000382329.1:c.4363-112_4363-111insT ENSP00000371766.1:n.4363-112_4363-111insT
ENST00000432829.6:c.5962-112_5962-111insT ENSP00000394888.3:n.5962-112_5962-111insT
ENST00000453981.5:c.5758-112_5758-111insT ENSP00000408464.2:n.5758-112_5758-111insT
ENST00000469391.5:c.5662-112_5662-111insT ENSP00000419438.1:n.5662-112_5662-111insT
ENST00000495184.5:n.7917-112_7917-111insT
NM_001190458.1:c.5662-112_5662-111insT NP_001177387.1:n.5662-112_5662-111insT
NM_001193536.1:c.5758-112_5758-111insT NP_001180465.1:n.5758-112_5758-111insT
NM_203447.3:c.5962-112_5962-111insT , LRG_196t1:c.5962-112_5962-111insT NP_982272.2:n.5962-112_5962-111insT
XM_011518045.1:c.5662-112_5662-111insT XP_011516347.1:n.5662-112_5662-111insT
XM_011518046.1:c.5824-112_5824-111insT XP_011516348.1:n.5824-112_5824-111insT
XM_011518047.1:c.5758-112_5758-111insT XP_011516349.1:n.5758-112_5758-111insT
XM_011518048.1:c.5758-112_5758-111insT XP_011516350.1:n.5758-112_5758-111insT
XM_011518049.1:c.4198-112_4198-111insT XP_011516351.1:n.4198-112_4198-111insT
XM_011518045.3:c.5662-112_5662-111insT XP_011516347.1:n.5662-112_5662-111insT
XM_011518046.2:c.5824-112_5824-111insT XP_011516348.1:n.5824-112_5824-111insT
XM_011518047.3:c.5758-112_5758-111insT XP_011516349.1:n.5758-112_5758-111insT
XM_011518048.2:c.5758-112_5758-111insT XP_011516350.1:n.5758-112_5758-111insT
XM_011518049.2:c.4198-112_4198-111insT XP_011516351.1:n.4198-112_4198-111insT
XM_017015173.1:c.5758-112_5758-111insT XP_016870662.1:n.5758-112_5758-111insT
XM_017015174.1:c.5824-112_5824-111insT XP_016870663.1:n.5824-112_5824-111insT
NM_001190458.2:c.5662-112_5662-111insT NP_001177387.1:n.5662-112_5662-111insT
NM_001193536.2:c.5758-112_5758-111insT NP_001180465.1:n.5758-112_5758-111insT
NM_203447.4:c.5962-112_5962-111insT MANE Select NP_982272.2:n.5962-112_5962-111insT