Canonical Allele Identifier: CA727854287
Gene: TAOK1 HGNC NCBI

Linked Data

dbSNP Id: rs1393623842
gnomAD v3: 17-29477822-TC-T
gnomAD v4: 17-29477822-TC-T
MyVariant Identifiers: chr17:g.27804841del (hg19) chr17:g.29477823del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29477823del , CM000679.2:g.29477823del GRCh38
NC_000017.10:g.27804841del , CM000679.1:g.27804841del GRCh37
NC_000017.9:g.24828967del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.352+117del MANE Select ENSP00000261716.3:n.352+117del
ENST00000261716.7:c.352+117del ENSP00000261716.3:n.352+117del
ENST00000536202.1:c.352+117del ENSP00000438819.1:n.352+117del
NM_020791.2:c.352+117del NP_065842.1:n.352+117del
NM_025142.1:c.352+117del NP_079418.1:n.352+117del
XM_011525060.1:c.352+117del XP_011523362.1:n.352+117del
XM_011525060.2:c.352+117del XP_011523362.1:n.352+117del
NM_020791.4:c.352+117del MANE Select NP_065842.1:n.352+117del
Search 100 bp 5'
Search 100 bp 3'