Canonical Allele Identifier: CA10575641
Gene: DOCK7 HGNC NCBI

Linked Data

ClinVar Variation Id: 139536
ClinVar RCV Id: RCV000128435
dbSNP Id: rs886037665

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62555911del , CM000663.2:g.62555911del GRCh38
NC_000001.10:g.63021582del , CM000663.1:g.63021582del GRCh37
NC_000001.9:g.62794170del NCBI36
NG_033073.1:g.137458del
NG_033073.2:g.137458del

Transcript Alleles

HGVS Amino-acid Change
ENST00000635253.2:c.2510del MANE Select ENSP00000489124.1:p.Asp837AlafsTer?
ENST00000637208.1:c.*630del ENSP00000490079.1:n.*630del
ENST00000251157.10:c.2510del ENSP00000251157.6:p.Asp837AlafsTer?
ENST00000340370.10:c.2510del ENSP00000340742.5:p.Asp837AlafsTer?
ENST00000454575.6:c.2510del ENSP00000413583.2:p.Asp837AlafsTer?
ENST00000614472.4:c.2186del ENSP00000483062.1:p.Asp729AlafsTer?
ENST00000634264.1:c.2510del ENSP00000489284.1:p.Asp837AlafsTer?
ENST00000634652.1:c.329del ENSP00000489450.1:p.Asp110AlafsTer?
ENST00000634929.1:c.364del
ENST00000635123.1:c.2510del ENSP00000489499.1:p.Asp837AlafsTer?
ENST00000635253.1:c.2510del ENSP00000489124.1:p.Asp837AlafsTer?
NM_001271999.1:c.2510del NP_001258928.1:p.Asp837AlafsTer?
NM_001272000.1:c.2510del NP_001258929.1:p.Asp837AlafsTer?
NM_001272001.1:c.2510del NP_001258930.1:p.Asp837AlafsTer?
NM_033407.3:c.2510del NP_212132.2:p.Asp837AlafsTer?
XM_005271292.1:c.2510del XP_005271349.1:p.Asp837AlafsTer?
XM_011542326.1:c.2510del XP_011540628.1:p.Asp837AlafsTer?
XM_011542327.1:c.2510del XP_011540629.1:p.Asp837AlafsTer?
XM_011542328.1:c.2510del XP_011540630.1:p.Asp837AlafsTer?
XM_011542329.1:c.2510del XP_011540631.1:p.Asp837AlafsTer?
XM_011542330.1:c.2510del XP_011540632.1:p.Asp837AlafsTer?
NM_001330614.1:c.2510del NP_001317543.1:p.Asp837AlafsTer?
XM_011542326.2:c.2510del XP_011540628.1:p.Asp837AlafsTer?
XM_011542327.2:c.2510del XP_011540629.1:p.Asp837AlafsTer?
XM_011542328.2:c.2510del XP_011540630.1:p.Asp837AlafsTer?
XM_011542330.2:c.2510del XP_011540632.1:p.Asp837AlafsTer?
XM_017002639.1:c.2510del XP_016858128.1:p.Asp837AlafsTer?
XM_017002640.1:c.2510del XP_016858129.1:p.Asp837AlafsTer?
NM_001367561.1:c.2510del MANE Select NP_001354490.1:p.Asp837AlafsTer?
NM_001271999.2:c.2510del NP_001258928.1:p.Asp837AlafsTer?
NM_001272000.2:c.2510del NP_001258929.1:p.Asp837AlafsTer?
NM_001272001.2:c.2510del NP_001258930.1:p.Asp837AlafsTer?
NM_001330614.2:c.2510del NP_001317543.1:p.Asp837AlafsTer?
NM_033407.4:c.2510del NP_212132.2:p.Asp837AlafsTer?