Canonical Allele Identifier: CA249193
Gene: DOK7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1273
dbSNP Id: rs606231128

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3493110_3493113dup , CM000666.2:g.3493110_3493113dup GRCh38
NC_000004.11:g.3494837_3494840dup , CM000666.1:g.3494837_3494840dup GRCh37
NC_000004.10:g.3464635_3464638dup NCBI36
NG_013072.2:g.34805_34808dup

Transcript Alleles

HGVS Amino-acid change
ENST00000340083.6:c.1124_1127dup MANE Select ENSP00000344432.5:p.Ala378SerfsTer30
ENST00000643608.1:c.692_695dup ENSP00000495701.1:p.Ala234SerfsTer30
ENST00000340083.5:c.1124_1127dup ENSP00000344432.5:p.Ala378SerfsTer30
ENST00000507039.5:c.*345_*348dup ENSP00000423614.1:n.*345_*348dup
ENST00000512714.1:n.316_319dup
ENST00000515886.5:n.892_895dup
NM_001164673.1:c.*345_*348dup NP_001158145.1:n.*345_*348dup
NM_001256896.1:c.194_197dup NP_001243825.1:p.Ala68SerfsTer30
NM_001301071.1:c.1124_1127dup NP_001288000.1:p.Ala378SerfsTer30
NM_173660.4:c.1124_1127dup NP_775931.3:p.Ala378SerfsTer30
XM_011513435.1:c.1124_1127dup XP_011511737.1:p.Ala378SerfsTer30
XM_011513436.1:c.1124_1127dup XP_011511738.1:p.Ala378SerfsTer30
XM_011513437.1:c.710_713dup XP_011511739.1:p.Ala240SerfsTer30
NM_001363811.1:c.692_695dup NP_001350740.1:p.Ala234SerfsTer30
XM_011513435.2:c.1124_1127dup XP_011511737.1:p.Ala378SerfsTer30
XM_011513437.2:c.710_713dup XP_011511739.1:p.Ala240SerfsTer30
NM_173660.5:c.1124_1127dup MANE Select NP_775931.3:p.Ala378SerfsTer30
NM_001164673.2:c.*345_*348dup NP_001158145.1:n.*345_*348dup
NM_001301071.2:c.1124_1127dup NP_001288000.1:p.Ala378SerfsTer30
NM_001363811.2:c.692_695dup NP_001350740.1:p.Ala234SerfsTer30
NM_001256896.2:c.194_197dup NP_001243825.1:p.Ala68SerfsTer30