Canonical Allele Identifier: CA16621566
Gene: DOCK7 HGNC NCBI

Linked Data

ClinVar Variation Id: 424899
ClinVar RCV Id: RCV000487960
dbSNP Id: rs1064797112
MyVariant Identifiers: chr1:g.62960114del (hg19) chr1:g.62494443del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62494443del , CM000663.2:g.62494443del GRCh38
NC_000001.10:g.62960114del , CM000663.1:g.62960114del GRCh37
NC_000001.9:g.62732702del NCBI36
NG_033073.1:g.198926del
NG_033073.2:g.198926del

Transcript Alleles

HGVS Amino-acid change
ENST00000635253.2:c.5049del MANE Select ENSP00000489124.1:p.Pro1684GlnfsTer5
ENST00000635983.1:n.1459del
ENST00000637208.1:c.*3142del ENSP00000490079.1:n.*3142del
ENST00000637255.1:c.2322del ENSP00000490888.1:p.Pro775GlnfsTer5
ENST00000251157.10:c.5022del ENSP00000251157.6:p.Pro1675GlnfsTer5
ENST00000340370.10:c.4956del ENSP00000340742.5:p.Pro1653GlnfsTer5
ENST00000454575.6:c.5022del ENSP00000413583.2:p.Pro1675GlnfsTer5
ENST00000479983.1:n.856del
ENST00000634264.1:c.4929del ENSP00000489284.1:p.Pro1644GlnfsTer5
ENST00000635123.1:c.4929del ENSP00000489499.1:p.Pro1644GlnfsTer5
ENST00000635253.1:c.5049del ENSP00000489124.1:p.Pro1684GlnfsTer5
NM_001271999.1:c.5022del NP_001258928.1:p.Pro1675GlnfsTer5
NM_001272000.1:c.4929del NP_001258929.1:p.Pro1644GlnfsTer5
NM_001272001.1:c.4929del NP_001258930.1:p.Pro1644GlnfsTer5
NM_033407.3:c.4956del NP_212132.2:p.Pro1653GlnfsTer5
XM_005271292.1:c.5022del XP_005271349.1:p.Pro1675GlnfsTer5
XM_011542326.1:c.5049del XP_011540628.1:p.Pro1684GlnfsTer5
XM_011542327.1:c.5049del XP_011540629.1:p.Pro1684GlnfsTer5
XM_011542328.1:c.5049del XP_011540630.1:p.Pro1684GlnfsTer5
XM_011542329.1:c.5049del XP_011540631.1:p.Pro1684GlnfsTer5
XM_011542330.1:c.5049del XP_011540632.1:p.Pro1684GlnfsTer5
NM_001330614.1:c.5022del NP_001317543.1:p.Pro1675GlnfsTer5
XM_011542326.2:c.5049del XP_011540628.1:p.Pro1684GlnfsTer5
XM_011542327.2:c.5049del XP_011540629.1:p.Pro1684GlnfsTer5
XM_011542328.2:c.5049del XP_011540630.1:p.Pro1684GlnfsTer5
XM_011542330.2:c.5049del XP_011540632.1:p.Pro1684GlnfsTer5
XM_017002639.1:c.4956del XP_016858128.1:p.Pro1653GlnfsTer5
XM_017002640.1:c.5049del XP_016858129.1:p.Pro1684GlnfsTer5
NM_001367561.1:c.5049del MANE Select NP_001354490.1:p.Pro1684GlnfsTer5
NM_001271999.2:c.5022del NP_001258928.1:p.Pro1675GlnfsTer5
NM_001272000.2:c.4929del NP_001258929.1:p.Pro1644GlnfsTer5
NM_001272001.2:c.4929del NP_001258930.1:p.Pro1644GlnfsTer5
NM_001330614.2:c.5022del NP_001317543.1:p.Pro1675GlnfsTer5
NM_033407.4:c.4956del NP_212132.2:p.Pro1653GlnfsTer5
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