Canonical Allele Identifier: CA915943005

Gene: DOK7

Linked Data

• ClinVar Variation Id: 665451
• ClinVar RCV Id: RCV000823739
• dbSNP Id: rs1577172369

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3489776_3489777delinsTA , CM000666.2:g.3489776_3489777delinsTA	GRCh38
NC_000004.11:g.3491503_3491504delinsTA , CM000666.1:g.3491503_3491504delinsTA	GRCh37
NC_000004.10:g.3461301_3461302delinsTA	NCBI36
NG_013072.2:g.31471_31472delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340083.6:c.752_753delinsTA MANE Select	ENSP00000344432.5:p.Ala251Val
ENST00000643608.1:c.320_321delinsTA	ENSP00000495701.1:p.Ala107Val
ENST00000340083.5:c.752_753delinsTA	ENSP00000344432.5:p.Ala251Val
ENST00000503688.5:n.385_386delinsTA
ENST00000507039.5:c.741_742delinsTA	ENSP00000423614.1:p.Gly248Arg
ENST00000513995.1:n.410_411delinsTA
ENST00000515886.5:n.520_521delinsTA
NM_001164673.1:c.741_742delinsTA	NP_001158145.1:p.Gly248Arg
NM_001256896.1:c.-179_-178delinsTA	NP_001243825.1:n.-179_-178delinsTA
NM_001301071.1:c.752_753delinsTA	NP_001288000.1:p.Ala251Val
NM_173660.4:c.752_753delinsTA	NP_775931.3:p.Ala251Val
XM_011513435.1:c.752_753delinsTA	XP_011511737.1:p.Ala251Val
XM_011513436.1:c.752_753delinsTA	XP_011511738.1:p.Ala251Val
XM_011513437.1:c.338_339delinsTA	XP_011511739.1:p.Ala113Val
NM_001363811.1:c.320_321delinsTA	NP_001350740.1:p.Ala107Val
XM_011513435.2:c.752_753delinsTA	XP_011511737.1:p.Ala251Val
XM_011513437.2:c.338_339delinsTA	XP_011511739.1:p.Ala113Val
NM_173660.5:c.752_753delinsTA MANE Select	NP_775931.3:p.Ala251Val
NM_001164673.2:c.741_742delinsTA	NP_001158145.1:p.Gly248Arg
NM_001301071.2:c.752_753delinsTA	NP_001288000.1:p.Ala251Val
NM_001363811.2:c.320_321delinsTA	NP_001350740.1:p.Ala107Val
NM_001256896.2:c.-179_-178delinsTA	NP_001243825.1:n.-179_-178delinsTA