Canonical Allele Identifier: CA356116090

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3492838G>A , CM000666.2:g.3492838G>A	GRCh38
NC_000004.11:g.3494565G>A , CM000666.1:g.3494565G>A	GRCh37
NC_000004.10:g.3464363G>A	NCBI36
NG_013072.2:g.34533G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.852G>A MANE Select	NP_775931.3:p.Trp284Ter
ENST00000340083.6:c.852G>A MANE Select	ENSP00000344432.5:p.Trp284Ter
NM_001164673.1:c.*73G>A	NP_001158145.1:n.*73G>A
NM_001164673.2:c.*73G>A	NP_001158145.1:n.*73G>A
NM_001256896.1:c.-79G>A	NP_001243825.1:n.-79G>A
NM_001256896.2:c.-79G>A	NP_001243825.1:n.-79G>A
NM_001301071.1:c.852G>A	NP_001288000.1:p.Trp284Ter
NM_001301071.2:c.852G>A	NP_001288000.1:p.Trp284Ter
NM_001363811.1:c.420G>A	NP_001350740.1:p.Trp140Ter
NM_001363811.2:c.420G>A	NP_001350740.1:p.Trp140Ter
NM_173660.4:c.852G>A	NP_775931.3:p.Trp284Ter
ENST00000340083.5:c.852G>A	ENSP00000344432.5:p.Trp284Ter
ENST00000503688.5:n.485G>A
ENST00000507039.5:c.*73G>A	ENSP00000423614.1:n.*73G>A
ENST00000512714.1:n.44G>A
ENST00000513995.1:n.510G>A
ENST00000515886.5:n.620G>A
ENST00000643608.1:c.420G>A	ENSP00000495701.1:p.Trp140Ter
XM_011513435.1:c.852G>A	XP_011511737.1:p.Trp284Ter
XM_011513435.2:c.852G>A	XP_011511737.1:p.Trp284Ter
XM_011513436.1:c.852G>A	XP_011511738.1:p.Trp284Ter
XM_011513437.1:c.438G>A	XP_011511739.1:p.Trp146Ter
XM_011513437.2:c.438G>A	XP_011511739.1:p.Trp146Ter