Canonical Allele Identifier: CA185689
Gene: DOCK8 HGNC NCBI

Linked Data

ClinVar Variation Id: 180037
dbSNP Id: rs727505303
gnomAD v2: 9-289590-CT-C
gnomAD v3: 9-289590-CT-C
gnomAD v4: 9-289590-CT-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.289597del , CM000671.2:g.289597del GRCh38
NC_000009.11:g.289597del , CM000671.1:g.289597del GRCh37
NC_000009.10:g.279597del NCBI36
NG_017007.1:g.79733del , LRG_196:g.79733del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.200+16del ENSP00000371766.2:n.200+16del
ENST00000483757.6:c.200+16del ENSP00000417691.2:n.200+16del
ENST00000682121.1:n.429del
ENST00000682249.1:c.200+16del ENSP00000507731.1:n.200+16del
ENST00000684166.1:n.529del
ENST00000684384.1:n.513+16del
ENST00000432829.7:c.404+16del MANE Select ENSP00000394888.3:n.404+16del
ENST00000382341.5:n.299+16del
ENST00000432829.6:c.404+16del ENSP00000394888.3:n.404+16del
ENST00000453981.5:c.200+16del ENSP00000408464.2:n.200+16del
ENST00000454469.6:n.513+16del
ENST00000469391.5:c.200+16del ENSP00000419438.1:n.200+16del
ENST00000478380.5:n.283+16del
ENST00000483757.5:c.200+16del ENSP00000417691.1:n.200+16del
ENST00000487230.5:c.200+16del ENSP00000418318.1:n.200+16del
ENST00000495184.5:n.265+16del
ENST00000524396.5:c.*367+16del ENSP00000436628.1:n.*367+16del
NM_001190458.1:c.200+16del NP_001177387.1:n.200+16del
NM_001193536.1:c.200+16del NP_001180465.1:n.200+16del
NM_203447.3:c.404+16del , LRG_196t1:c.404+16del NP_982272.2:n.404+16del
XM_011518045.1:c.200+16del XP_011516347.1:n.200+16del
XM_011518046.1:c.266+16del XP_011516348.1:n.266+16del
XM_011518047.1:c.200+16del XP_011516349.1:n.200+16del
XM_011518048.1:c.200+16del XP_011516350.1:n.200+16del
XM_011518045.3:c.200+16del XP_011516347.1:n.200+16del
XM_011518046.2:c.266+16del XP_011516348.1:n.266+16del
XM_011518047.3:c.200+16del XP_011516349.1:n.200+16del
XM_011518048.2:c.200+16del XP_011516350.1:n.200+16del
XM_017015173.1:c.200+16del XP_016870662.1:n.200+16del
XM_017015174.1:c.266+16del XP_016870663.1:n.266+16del
NM_001190458.2:c.200+16del NP_001177387.1:n.200+16del
NM_001193536.2:c.200+16del NP_001180465.1:n.200+16del
NM_203447.4:c.404+16del MANE Select NP_982272.2:n.404+16del