Canonical Allele Identifier: CA186072
Gene: DOCK6 HGNC NCBI

Linked Data

ClinVar Variation Id: 183335
ClinVar RCV Id: RCV000024123 RCV000162169
dbSNP Id: rs730882238
ExAC: 19:11353954 CAGTT / C
gnomAD v2: 19-11353954-CAGTT-C
gnomAD v3: 19-11243278-CAGTT-C
gnomAD v4: 19-11243278-CAGTT-C
MyVariant Identifiers: chr19:g.11353955_11353958del (hg19) chr19:g.11243280_11243283del (hg38) chr19:g.11243279_11243282del (hg38)
PubMed: PMID:25558065
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11243281_11243284del , CM000681.2:g.11243281_11243284del GRCh38
NC_000019.9:g.11353957_11353960del , CM000681.1:g.11353957_11353960del GRCh37
NC_000019.8:g.11214957_11214960del NCBI36
NG_031953.1:g.24211_24214del

Transcript Alleles

HGVS Amino-acid change
ENST00000587656.6:c.1362_1365del ENSP00000468638.2:p.Thr455SerfsTer24
ENST00000294618.12:c.1362_1365del MANE Select ENSP00000294618.6:p.Thr455SerfsTer24
ENST00000294618.11:c.1362_1365del ENSP00000294618.6:p.Thr455SerfsTer24
NM_020812.3:c.1362_1365del NP_065863.2:p.Thr455SerfsTer24
XM_005260000.2:c.1362_1365del XP_005260057.1:p.Thr455SerfsTer24
XM_005260001.2:c.1362_1365del XP_005260058.1:p.Thr455SerfsTer24
XM_011528150.1:c.1395_1398del XP_011526452.1:p.Thr466SerfsTer24
XM_011528151.1:c.1395_1398del XP_011526453.1:p.Thr466SerfsTer24
XM_011528152.1:c.1395_1398del XP_011526454.1:p.Thr466SerfsTer24
XM_011528153.1:c.1395_1398del XP_011526455.1:p.Thr466SerfsTer24
XR_936195.1:n.1456_1459del
XR_936196.1:n.1456_1459del
XR_936197.1:n.1456_1459del
XR_936198.1:n.1456_1459del
NM_001367830.1:c.1362_1365del NP_001354759.1:p.Thr455SerfsTer24
NM_020812.4:c.1362_1365del MANE Select NP_065863.2:p.Thr455SerfsTer24
Search 100 bp 5'
Search 100 bp 3'