Canonical Allele Identifier: CA2580614034

Gene: TAOK1

Linked Data

• ClinVar Variation Id: 1712256
• ClinVar RCV Id: RCV002293969

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29451566_29451567del , CM000679.2:g.29451566_29451567del	GRCh38
NC_000017.10:g.27778584_27778585del , CM000679.1:g.27778584_27778585del	GRCh37
NC_000017.9:g.24802710_24802711del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261716.8:c.18_19del MANE Select	ENSP00000261716.3:p.Arg6SerfsTer8
ENST00000261716.7:c.18_19del	ENSP00000261716.3:p.Arg6SerfsTer8
ENST00000536202.1:c.18_19del	ENSP00000438819.1:p.Arg6SerfsTer8
ENST00000583121.5:c.18_19del	ENSP00000464562.1:p.Arg6SerfsTer8
ENST00000587277.1:n.212_213del
NM_020791.2:c.18_19del	NP_065842.1:p.Arg6SerfsTer8
NM_025142.1:c.18_19del	NP_079418.1:p.Arg6SerfsTer8
XM_011525060.1:c.18_19del	XP_011523362.1:p.Arg6SerfsTer8
XM_011525060.2:c.18_19del	XP_011523362.1:p.Arg6SerfsTer8
NM_020791.4:c.18_19del MANE Select	NP_065842.1:p.Arg6SerfsTer8