Canonical Allele Identifier: CA117429
Gene: DOCK7 HGNC NCBI
ANGPTL3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18439
ClinVar RCV Id: RCV000005684
dbSNP Id: rs267606655

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62597616_62597617delinsGA , CM000663.2:g.62597616_62597617delinsGA GRCh38
NC_000001.10:g.63063287_63063288delinsGA , CM000663.1:g.63063287_63063288delinsGA GRCh37
NC_000001.9:g.62835875_62835876delinsGA NCBI36
NG_028169.1:g.5101_5102delinsGA
NG_033073.1:g.95752_95753delinsTC
NG_033073.2:g.95752_95753delinsTC

Transcript Alleles

HGVS Amino-acid change
NM_001271999.1:c.1683-10993_1683-10992delinsTC (DOCK7) VV NP_001258928.1:p.=
NM_001272000.1:c.1683-10993_1683-10992delinsTC (DOCK7) VV NP_001258929.1:p.=
NM_001272001.1:c.1683-10993_1683-10992delinsTC (DOCK7) VV NP_001258930.1:p.=
NM_001272002.1:c.1683-10993_1683-10992delinsTC (DOCK7) VV NP_001258931.1:p.=
NM_014495.3:c.50_51delinsGA (ANGPTL3) VV NP_055310.1:p.Ser17Ter
NM_033407.3:c.1683-10993_1683-10992delinsTC (DOCK7) VV NP_212132.2:p.=
XM_005271292.1:c.1683-10993_1683-10992delinsTC (DOCK7) XP_005271349.1:p.=
XM_011542326.1:c.1683-10993_1683-10992delinsTC (DOCK7) XP_011540628.1:p.=
XM_011542327.1:c.1683-10993_1683-10992delinsTC (DOCK7) XP_011540629.1:p.=
XM_011542328.1:c.1683-10993_1683-10992delinsTC (DOCK7) XP_011540630.1:p.=
XM_011542329.1:c.1683-10993_1683-10992delinsTC (DOCK7) XP_011540631.1:p.=
XM_011542330.1:c.1683-10993_1683-10992delinsTC (DOCK7) XP_011540632.1:p.=
NM_001330614.1:c.1683-10993_1683-10992delinsTC (DOCK7) VV NP_001317543.1:p.=
XM_011542326.2:c.1683-10993_1683-10992delinsTC (DOCK7) XP_011540628.1:p.=
XM_011542327.2:c.1683-10993_1683-10992delinsTC (DOCK7) XP_011540629.1:p.=
XM_011542328.2:c.1683-10993_1683-10992delinsTC (DOCK7) XP_011540630.1:p.=
XM_011542330.2:c.1683-10993_1683-10992delinsTC (DOCK7) XP_011540632.1:p.=
XM_017002639.1:c.1683-10993_1683-10992delinsTC (DOCK7) XP_016858128.1:p.=
XM_017002640.1:c.1683-10993_1683-10992delinsTC (DOCK7) XP_016858129.1:p.=
NM_001367561.1:c.1683-10993_1683-10992delinsTC (DOCK7) VV NP_001354490.1:p.=
ENST00000251157.10:n.1683-10993_1683-10992delinsTC ENSP00000251157.6:p.=
ENST00000340370.10:n.1683-10993_1683-10992delinsTC ENSP00000340742.5:p.=
ENST00000371129.3:c.50_51delinsGA ENSP00000360170.3:p.Ser17Ter
ENST00000404627.3:c.1683-10993_1683-10992delinsTC ENSP00000384446.2:p.=
ENST00000454575.6:c.1683-10993_1683-10992delinsTC ENSP00000413583.2:p.=
ENST00000614472.4:n.1359-10993_1359-10992delinsTC ENSP00000483062.1:p.=
ENST00000634223.1:n.13-10993_13-10992delinsTC
ENST00000634264.1:n.1683-10993_1683-10992delinsTC ENSP00000489284.1:p.=
ENST00000635123.1:n.1683-10993_1683-10992delinsTC ENSP00000489499.1:p.=
ENST00000635253.1:n.1683-10993_1683-10992delinsTC ENSP00000489124.1:p.=