Canonical Allele Identifier: CA549706293
Gene: DOK7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674884
dbSNP Id: rs606231133
gnomAD v2: 4-3495085-GC-G
gnomAD v3: 4-3493358-GC-G
gnomAD v4: 4-3493358-GC-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3493364del , CM000666.2:g.3493364del GRCh38
NC_000004.11:g.3495091del , CM000666.1:g.3495091del GRCh37
NC_000004.10:g.3464889del NCBI36
NG_013072.2:g.35059del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340083.6:c.1378del MANE Select ENSP00000344432.5:p.Gln460ArgfsTer?
ENST00000643608.1:c.946del ENSP00000495701.1:p.Gln316ArgfsTer?
ENST00000340083.5:c.1378del ENSP00000344432.5:p.Gln460ArgfsTer?
ENST00000507039.5:c.*599del ENSP00000423614.1:n.*599del
ENST00000512714.1:n.570del
ENST00000515886.5:n.1146del
NM_001164673.1:c.*599del NP_001158145.1:n.*599del
NM_001256896.1:c.448del NP_001243825.1:p.Gln150ArgfsTer?
NM_001301071.1:c.1378del NP_001288000.1:p.Gln460ArgfsTer?
NM_173660.4:c.1378del NP_775931.3:p.Gln460ArgfsTer?
XM_011513435.1:c.1378del XP_011511737.1:p.Gln460ArgfsTer?
XM_011513436.1:c.1378del XP_011511738.1:p.Gln460ArgfsTer?
XM_011513437.1:c.964del XP_011511739.1:p.Gln322ArgfsTer?
NM_001363811.1:c.946del NP_001350740.1:p.Gln316ArgfsTer?
XM_011513435.2:c.1378del XP_011511737.1:p.Gln460ArgfsTer?
XM_011513437.2:c.964del XP_011511739.1:p.Gln322ArgfsTer?
NM_173660.5:c.1378del MANE Select NP_775931.3:p.Gln460ArgfsTer?
NM_001164673.2:c.*599del NP_001158145.1:n.*599del
NM_001301071.2:c.1378del NP_001288000.1:p.Gln460ArgfsTer?
NM_001363811.2:c.946del NP_001350740.1:p.Gln316ArgfsTer?
NM_001256896.2:c.448del NP_001243825.1:p.Gln150ArgfsTer?