Canonical Allele Identifier: CA2825002480
Gene: TAOK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3067638
ClinVar RCV Id: RCV003993327
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29530431_29530433del , CM000679.2:g.29530431_29530433del GRCh38
NC_000017.10:g.27857449_27857451del , CM000679.1:g.27857449_27857451del GRCh37
NC_000017.9:g.24881575_24881577del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261716.8:c.2173_2175del MANE Select ENSP00000261716.3:p.Gln725del
ENST00000261716.7:c.2173_2175del ENSP00000261716.3:p.Gln725del
ENST00000536202.1:c.1729_1731del ENSP00000438819.1:p.Gln577del
ENST00000578653.1:n.257_259del
NM_020791.2:c.2173_2175del NP_065842.1:p.Gln725del
NM_025142.1:c.1729_1731del NP_079418.1:p.Gln577del
XM_011525060.1:c.2173_2175del XP_011523362.1:p.Gln725del
XM_011525060.2:c.2173_2175del XP_011523362.1:p.Gln725del
NM_020791.4:c.2173_2175del MANE Select NP_065842.1:p.Gln725del
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