Canonical Allele Identifier: CA2573054361

Gene: TAOK1

Linked Data

• ClinVar Variation Id: 1310669
• ClinVar RCV Id: RCV001767783
• dbSNP Id: rs2150772089

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29530511_29530514del , CM000679.2:g.29530511_29530514del	GRCh38
NC_000017.10:g.27857529_27857532del , CM000679.1:g.27857529_27857532del	GRCh37
NC_000017.9:g.24881655_24881658del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261716.8:c.2253_2256del MANE Select	ENSP00000261716.3:p.Glu752ThrfsTer5
ENST00000261716.7:c.2253_2256del	ENSP00000261716.3:p.Glu752ThrfsTer5
ENST00000536202.1:c.1809_1812del	ENSP00000438819.1:p.Glu604ThrfsTer5
ENST00000578653.1:n.337_340del
NM_020791.2:c.2253_2256del	NP_065842.1:p.Glu752ThrfsTer5
NM_025142.1:c.1809_1812del	NP_079418.1:p.Glu604ThrfsTer5
XM_011525060.1:c.2253_2256del	XP_011523362.1:p.Glu752ThrfsTer5
XM_011525060.2:c.2253_2256del	XP_011523362.1:p.Glu752ThrfsTer5
NM_020791.4:c.2253_2256del MANE Select	NP_065842.1:p.Glu752ThrfsTer5