Canonical Allele Identifier: CA585888226
Gene: DOCK8 HGNC NCBI

Linked Data

dbSNP Id: rs1412045079
gnomAD v2: 9-451942-T-TGC
gnomAD v3: 9-451942-T-TGC
gnomAD v4: 9-451942-T-TGC

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451942_451943insGC , CM000671.2:g.451942_451943insGC GRCh38
NC_000009.11:g.451942_451943insGC , CM000671.1:g.451942_451943insGC GRCh37
NC_000009.10:g.441942_441943insGC NCBI36
NG_017007.1:g.242078_242079insGC , LRG_196:g.242078_242079insGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-69_5662-68insGC ENSP00000371766.2:n.5662-69_5662-68insGC
ENST00000683406.1:n.2437-69_2437-68insGC
ENST00000684637.1:n.1643-69_1643-68insGC
ENST00000685949.1:n.4750-69_4750-68insGC
ENST00000432829.7:c.5962-69_5962-68insGC MANE Select ENSP00000394888.3:n.5962-69_5962-68insGC
ENST00000382329.1:c.4363-69_4363-68insGC ENSP00000371766.1:n.4363-69_4363-68insGC
ENST00000432829.6:c.5962-69_5962-68insGC ENSP00000394888.3:n.5962-69_5962-68insGC
ENST00000453981.5:c.5758-69_5758-68insGC ENSP00000408464.2:n.5758-69_5758-68insGC
ENST00000469391.5:c.5662-69_5662-68insGC ENSP00000419438.1:n.5662-69_5662-68insGC
ENST00000495184.5:n.7917-69_7917-68insGC
NM_001190458.1:c.5662-69_5662-68insGC NP_001177387.1:n.5662-69_5662-68insGC
NM_001193536.1:c.5758-69_5758-68insGC NP_001180465.1:n.5758-69_5758-68insGC
NM_203447.3:c.5962-69_5962-68insGC , LRG_196t1:c.5962-69_5962-68insGC NP_982272.2:n.5962-69_5962-68insGC
XM_011518045.1:c.5662-69_5662-68insGC XP_011516347.1:n.5662-69_5662-68insGC
XM_011518046.1:c.5824-69_5824-68insGC XP_011516348.1:n.5824-69_5824-68insGC
XM_011518047.1:c.5758-69_5758-68insGC XP_011516349.1:n.5758-69_5758-68insGC
XM_011518048.1:c.5758-69_5758-68insGC XP_011516350.1:n.5758-69_5758-68insGC
XM_011518049.1:c.4198-69_4198-68insGC XP_011516351.1:n.4198-69_4198-68insGC
XM_011518045.3:c.5662-69_5662-68insGC XP_011516347.1:n.5662-69_5662-68insGC
XM_011518046.2:c.5824-69_5824-68insGC XP_011516348.1:n.5824-69_5824-68insGC
XM_011518047.3:c.5758-69_5758-68insGC XP_011516349.1:n.5758-69_5758-68insGC
XM_011518048.2:c.5758-69_5758-68insGC XP_011516350.1:n.5758-69_5758-68insGC
XM_011518049.2:c.4198-69_4198-68insGC XP_011516351.1:n.4198-69_4198-68insGC
XM_017015173.1:c.5758-69_5758-68insGC XP_016870662.1:n.5758-69_5758-68insGC
XM_017015174.1:c.5824-69_5824-68insGC XP_016870663.1:n.5824-69_5824-68insGC
NM_001190458.2:c.5662-69_5662-68insGC NP_001177387.1:n.5662-69_5662-68insGC
NM_001193536.2:c.5758-69_5758-68insGC NP_001180465.1:n.5758-69_5758-68insGC
NM_203447.4:c.5962-69_5962-68insGC MANE Select NP_982272.2:n.5962-69_5962-68insGC