Canonical Allele Identifier: CA16618848
Gene: DOCK8 HGNC NCBI

Linked Data

ClinVar Variation Id: 418635
ClinVar RCV Id: RCV000485084 RCV000623214
dbSNP Id: rs1064793335
MyVariant Identifiers: chr9:g.328045_328046insTTGAACT (hg19) chr9:g.328045_328046insTTGAACT (hg38)
PubMed: PMID:14722525 PMID:18060736 PMID:19776401 PMID:20004785 PMID:22085750 PMID:25724123
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.328045_328046insTTGAACT , CM000671.2:g.328045_328046insTTGAACT GRCh38
NC_000009.11:g.328045_328046insTTGAACT , CM000671.1:g.328045_328046insTTGAACT GRCh37
NC_000009.10:g.318045_318046insTTGAACT NCBI36
NG_017007.1:g.118181_118182insTTGAACT , LRG_196:g.118181_118182insTTGAACT

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.714_715insTTGAACT ENSP00000371766.2:p.Asp242GlufsTer3
ENST00000483757.6:c.714_715insTTGAACT ENSP00000417691.2:p.Asp242GlufsTer3
ENST00000432829.7:c.918_919insTTGAACT MANE Select ENSP00000394888.3:p.Asp310GlufsTer3
ENST00000382341.5:n.813_814insTTGAACT
ENST00000432829.6:c.918_919insTTGAACT ENSP00000394888.3:p.Asp310GlufsTer3
ENST00000453981.5:c.714_715insTTGAACT ENSP00000408464.2:p.Asp242GlufsTer3
ENST00000454469.6:n.1027_1028insTTGAACT
ENST00000469391.5:c.714_715insTTGAACT ENSP00000419438.1:p.Asp242GlufsTer3
ENST00000483757.5:c.714_715insTTGAACT ENSP00000417691.1:p.Asp242GlufsTer3
ENST00000495184.5:n.779_780insTTGAACT
ENST00000524396.5:c.*881_*882insTTGAACT ENSP00000436628.1:n.*881_*882insTTGAACT
NM_001190458.1:c.714_715insTTGAACT NP_001177387.1:p.Asp242GlufsTer3
NM_001193536.1:c.714_715insTTGAACT NP_001180465.1:p.Asp242GlufsTer3
NM_203447.3:c.918_919insTTGAACT , LRG_196t1:c.918_919insTTGAACT NP_982272.2:p.Asp310GlufsTer3
XM_011518045.1:c.714_715insTTGAACT XP_011516347.1:p.Asp242GlufsTer3
XM_011518046.1:c.780_781insTTGAACT XP_011516348.1:p.Asp264GlufsTer3
XM_011518047.1:c.714_715insTTGAACT XP_011516349.1:p.Asp242GlufsTer3
XM_011518048.1:c.714_715insTTGAACT XP_011516350.1:p.Asp242GlufsTer3
XM_011518045.3:c.714_715insTTGAACT XP_011516347.1:p.Asp242GlufsTer3
XM_011518046.2:c.780_781insTTGAACT XP_011516348.1:p.Asp264GlufsTer3
XM_011518047.3:c.714_715insTTGAACT XP_011516349.1:p.Asp242GlufsTer3
XM_011518048.2:c.714_715insTTGAACT XP_011516350.1:p.Asp242GlufsTer3
XM_017015173.1:c.714_715insTTGAACT XP_016870662.1:p.Asp242GlufsTer3
XM_017015174.1:c.780_781insTTGAACT XP_016870663.1:p.Asp264GlufsTer3
NM_001190458.2:c.714_715insTTGAACT NP_001177387.1:p.Asp242GlufsTer3
NM_001193536.2:c.714_715insTTGAACT NP_001180465.1:p.Asp242GlufsTer3
NM_203447.4:c.918_919insTTGAACT MANE Select NP_982272.2:p.Asp310GlufsTer3
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