Canonical Allele Identifier: CA549706293

Gene: DOK7

Linked Data

• ClinVar Variation Id: 2674884
• ClinVar RCV Id: RCV003466215 ; RCV003779012
• dbSNP Id: rs606231133
• gnomAD v2: 4-3495085-GC-G
• gnomAD v3: 4-3493358-GC-G
• gnomAD v4: 4-3493358-GC-G
• MyVariant Identifiers: chr4:g.3495086del (hg19) ; chr4:g.3493359del (hg38)

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?