Canonical Allele Identifier: CA2580070721

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3489706_3489707delinsTT , CM000666.2:g.3489706_3489707delinsTT	GRCh38
NC_000004.11:g.3491433_3491434delinsTT , CM000666.1:g.3491433_3491434delinsTT	GRCh37
NC_000004.10:g.3461231_3461232delinsTT	NCBI36
NG_013072.2:g.31401_31402delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.682_683delinsTT MANE Select	NP_775931.3:p.Glu228Leu
ENST00000340083.6:c.682_683delinsTT MANE Select	ENSP00000344432.5:p.Glu228Leu
NM_001164673.1:c.671_672delinsTT	NP_001158145.1:p.Gly224Val
NM_001164673.2:c.671_672delinsTT	NP_001158145.1:p.Gly224Val
NM_001256896.1:c.-249_-248delinsTT	NP_001243825.1:n.-249_-248delinsTT
NM_001256896.2:c.-249_-248delinsTT	NP_001243825.1:n.-249_-248delinsTT
NM_001301071.1:c.682_683delinsTT	NP_001288000.1:p.Glu228Leu
NM_001301071.2:c.682_683delinsTT	NP_001288000.1:p.Glu228Leu
NM_001363811.1:c.250_251delinsTT	NP_001350740.1:p.Glu84Leu
NM_001363811.2:c.250_251delinsTT	NP_001350740.1:p.Glu84Leu
NM_173660.4:c.682_683delinsTT	NP_775931.3:p.Glu228Leu
ENST00000340083.5:c.682_683delinsTT	ENSP00000344432.5:p.Glu228Leu
ENST00000503688.5:n.315_316delinsTT
ENST00000507039.5:c.671_672delinsTT	ENSP00000423614.1:p.Gly224Val
ENST00000513995.1:n.340_341delinsTT
ENST00000515886.5:n.450_451delinsTT
ENST00000643608.1:c.250_251delinsTT	ENSP00000495701.1:p.Glu84Leu
XM_011513435.1:c.682_683delinsTT	XP_011511737.1:p.Glu228Leu
XM_011513435.2:c.682_683delinsTT	XP_011511737.1:p.Glu228Leu
XM_011513436.1:c.682_683delinsTT	XP_011511738.1:p.Glu228Leu
XM_011513437.1:c.268_269delinsTT	XP_011511739.1:p.Glu90Leu
XM_011513437.2:c.268_269delinsTT	XP_011511739.1:p.Glu90Leu