Canonical Allele Identifier: CA727862456
Gene: TAOK1 HGNC NCBI

Linked Data

dbSNP Id: rs1283894630
gnomAD v3: 17-29495696-GA-G
gnomAD v4: 17-29495696-GA-G
MyVariant Identifiers: chr17:g.27822715del (hg19) chr17:g.29495697del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29495697del , CM000679.2:g.29495697del GRCh38
NC_000017.10:g.27822715del , CM000679.1:g.27822715del GRCh37
NC_000017.9:g.24846841del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.969del MANE Select ENSP00000261716.3:p.Pro324GlnfsTer3
ENST00000261716.7:c.969del ENSP00000261716.3:p.Pro324GlnfsTer3
ENST00000536202.1:c.969del ENSP00000438819.1:p.Pro324GlnfsTer3
ENST00000577583.1:n.817del
NM_020791.2:c.969del NP_065842.1:p.Pro324GlnfsTer3
NM_025142.1:c.969del NP_079418.1:p.Pro324GlnfsTer3
XM_011525060.1:c.969del XP_011523362.1:p.Pro324GlnfsTer3
XM_011525060.2:c.969del XP_011523362.1:p.Pro324GlnfsTer3
NM_020791.4:c.969del MANE Select NP_065842.1:p.Pro324GlnfsTer3
Search 100 bp 5'
Search 100 bp 3'