Canonical Allele Identifier: CA2636951720
Gene: TAOK1 HGNC NCBI

Linked Data

gnomAD v4: 17-29495674-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29495678del , CM000679.2:g.29495678del GRCh38
NC_000017.10:g.27822696del , CM000679.1:g.27822696del GRCh37
NC_000017.9:g.24846822del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.950del MANE Select ENSP00000261716.3:p.Phe317SerfsTer10
ENST00000261716.7:c.950del ENSP00000261716.3:p.Phe317SerfsTer10
ENST00000536202.1:c.950del ENSP00000438819.1:p.Phe317SerfsTer10
ENST00000577583.1:n.798del
NM_020791.2:c.950del NP_065842.1:p.Phe317SerfsTer10
NM_025142.1:c.950del NP_079418.1:p.Phe317SerfsTer10
XM_011525060.1:c.950del XP_011523362.1:p.Phe317SerfsTer10
XM_011525060.2:c.950del XP_011523362.1:p.Phe317SerfsTer10
NM_020791.4:c.950del MANE Select NP_065842.1:p.Phe317SerfsTer10
Search 100 bp 5'
Search 100 bp 3'