Canonical Allele Identifier: CA145486
Gene: DOCK7 HGNC NCBI
ANGPTL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 91866
ClinVar RCV Id: RCV000077769
dbSNP Id: rs398122988

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62597929_62597933del , CM000663.2:g.62597929_62597933del GRCh38
NC_000001.10:g.63063600_63063604del , CM000663.1:g.63063600_63063604del GRCh37
NC_000001.9:g.62836188_62836192del NCBI36
NG_028169.1:g.5414_5418del
NG_033073.1:g.95443_95447del
NG_033073.2:g.95443_95447del

Transcript Alleles

HGVS Amino-acid change
ENST00000371129.4:c.363_367del MANE Select ENSP00000360170.3:p.Asn121LysfsTer3
ENST00000614472.5:n.1389-11302_1389-11298del ENSP00000483062.2:p.=
ENST00000635253.2:c.1683-11302_1683-11298del MANE Select ENSP00000489124.1:p.=
ENST00000637208.1:c.1683-11302_1683-11298del ENSP00000490079.1:p.=
ENST00000637227.1:n.82-385_82-381del
ENST00000251157.10:n.1683-11302_1683-11298del ENSP00000251157.6:p.=
ENST00000340370.10:n.1683-11302_1683-11298del ENSP00000340742.5:p.=
ENST00000371129.3:c.363_367del ENSP00000360170.3:p.Asn121LysfsTer3
ENST00000404627.3:c.1683-11302_1683-11298del ENSP00000384446.2:p.=
ENST00000454575.6:c.1683-11302_1683-11298del ENSP00000413583.2:p.=
ENST00000614472.4:n.1359-11302_1359-11298del ENSP00000483062.1:p.=
ENST00000634223.1:n.13-11302_13-11298del
ENST00000634264.1:n.1683-11302_1683-11298del ENSP00000489284.1:p.=
ENST00000635123.1:n.1683-11302_1683-11298del ENSP00000489499.1:p.=
ENST00000635253.1:n.1683-11302_1683-11298del ENSP00000489124.1:p.=
NM_001271999.1:c.1683-11302_1683-11298del (DOCK7) NP_001258928.1:p.=
NM_001272000.1:c.1683-11302_1683-11298del (DOCK7) NP_001258929.1:p.=
NM_001272001.1:c.1683-11302_1683-11298del (DOCK7) NP_001258930.1:p.=
NM_001272002.1:c.1683-11302_1683-11298del (DOCK7) NP_001258931.1:p.=
NM_014495.3:c.363_367del (ANGPTL3) NP_055310.1:p.Asn121LysfsTer3
NM_033407.3:c.1683-11302_1683-11298del (DOCK7) NP_212132.2:p.=
XM_005271292.1:c.1683-11302_1683-11298del (DOCK7) XP_005271349.1:p.=
XM_011542326.1:c.1683-11302_1683-11298del (DOCK7) XP_011540628.1:p.=
XM_011542327.1:c.1683-11302_1683-11298del (DOCK7) XP_011540629.1:p.=
XM_011542328.1:c.1683-11302_1683-11298del (DOCK7) XP_011540630.1:p.=
XM_011542329.1:c.1683-11302_1683-11298del (DOCK7) XP_011540631.1:p.=
XM_011542330.1:c.1683-11302_1683-11298del (DOCK7) XP_011540632.1:p.=
NM_001330614.1:c.1683-11302_1683-11298del (DOCK7) NP_001317543.1:p.=
XM_011542326.2:c.1683-11302_1683-11298del (DOCK7) XP_011540628.1:p.=
XM_011542327.2:c.1683-11302_1683-11298del (DOCK7) XP_011540629.1:p.=
XM_011542328.2:c.1683-11302_1683-11298del (DOCK7) XP_011540630.1:p.=
XM_011542330.2:c.1683-11302_1683-11298del (DOCK7) XP_011540632.1:p.=
XM_017002639.1:c.1683-11302_1683-11298del (DOCK7) XP_016858128.1:p.=
XM_017002640.1:c.1683-11302_1683-11298del (DOCK7) XP_016858129.1:p.=
NM_001367561.1:c.1683-11302_1683-11298del (DOCK7) MANE Select NP_001354490.1:p.=
NM_001272002.2:c.1683-11302_1683-11298del (DOCK7) NP_001258931.1:p.=
NM_014495.4:c.363_367del (ANGPTL3) MANE Select NP_055310.1:p.Asn121LysfsTer3
NM_001271999.2:c.1683-11302_1683-11298del (DOCK7) NP_001258928.1:p.=
NM_001272000.2:c.1683-11302_1683-11298del (DOCK7) NP_001258929.1:p.=
NM_001272001.2:c.1683-11302_1683-11298del (DOCK7) NP_001258930.1:p.=
NM_001330614.2:c.1683-11302_1683-11298del (DOCK7) NP_001317543.1:p.=
NM_033407.4:c.1683-11302_1683-11298del (DOCK7) NP_212132.2:p.=