Canonical Allele Identifier: CA2636952436

Gene: TAOK1

Linked Data

• gnomAD v4: 17-29510956-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29510961_29510962del , CM000679.2:g.29510961_29510962del	GRCh38
NC_000017.10:g.27837979_27837980del , CM000679.1:g.27837979_27837980del	GRCh37
NC_000017.9:g.24862105_24862106del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261716.8:c.1673_1674del MANE Select	ENSP00000261716.3:p.Glu558ValfsTer2
ENST00000261716.7:c.1673_1674del	ENSP00000261716.3:p.Glu558ValfsTer2
ENST00000536202.1:c.1673_1674del	ENSP00000438819.1:p.Glu558ValfsTer2
ENST00000577583.1:n.1521_1522del
NM_020791.2:c.1673_1674del	NP_065842.1:p.Glu558ValfsTer2
NM_025142.1:c.1673_1674del	NP_079418.1:p.Glu558ValfsTer2
XM_011525060.1:c.1673_1674del	XP_011523362.1:p.Glu558ValfsTer2
XM_011525060.2:c.1673_1674del	XP_011523362.1:p.Glu558ValfsTer2
NM_020791.4:c.1673_1674del MANE Select	NP_065842.1:p.Glu558ValfsTer2