Canonical Allele Identifier: CA915940549

Gene: TAOK1

Linked Data

• ClinVar Variation Id: 1300170
• ClinVar RCV Id: RCV001731167
• dbSNP Id: rs2150774757

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29534122_29534123insC , CM000679.2:g.29534122_29534123insC	GRCh38
NC_000017.10:g.27861140_27861141insC , CM000679.1:g.27861140_27861141insC	GRCh37
NC_000017.9:g.24885266_24885267insC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000261716.8:c.2366_2367insC MANE Select	ENSP00000261716.3:p.Leu790PhefsTer3
ENST00000261716.7:c.2366_2367insC	ENSP00000261716.3:p.Leu790PhefsTer3
ENST00000536202.1:c.1922_1923insC	ENSP00000438819.1:p.Leu642PhefsTer3
NM_020791.2:c.2366_2367insC	NP_065842.1:p.Leu790PhefsTer3
NM_025142.1:c.1922_1923insC	NP_079418.1:p.Leu642PhefsTer3
XM_011525060.1:c.2366_2367insC	XP_011523362.1:p.Leu790PhefsTer3
XM_011525060.2:c.2366_2367insC	XP_011523362.1:p.Leu790PhefsTer3
NM_020791.4:c.2366_2367insC MANE Select	NP_065842.1:p.Leu790PhefsTer3