Canonical Allele Identifier: CA625670148

Gene: TAOK1

Linked Data

• dbSNP Id: rs1567734795
• gnomAD v2: 17-27822733-G-GGAA
• gnomAD v4: 17-29495715-G-GGAA
• MyVariant Identifiers: chr17:g.27822736_27822737insGAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29495724_29495726dup , CM000679.2:g.29495724_29495726dup	GRCh38
NC_000017.10:g.27822742_27822744dup , CM000679.1:g.27822742_27822744dup	GRCh37
NC_000017.9:g.24846868_24846870dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261716.8:c.996_998dup MANE Select	ENSP00000261716.3:p.Glu333_Glu334insGlu
ENST00000261716.7:c.996_998dup	ENSP00000261716.3:p.Glu333_Glu334insGlu
ENST00000536202.1:c.996_998dup	ENSP00000438819.1:p.Glu333_Glu334insGlu
ENST00000577583.1:n.844_846dup
NM_020791.2:c.996_998dup	NP_065842.1:p.Glu333_Glu334insGlu
NM_025142.1:c.996_998dup	NP_079418.1:p.Glu333_Glu334insGlu
XM_011525060.1:c.996_998dup	XP_011523362.1:p.Glu333_Glu334insGlu
XM_011525060.2:c.996_998dup	XP_011523362.1:p.Glu333_Glu334insGlu
NM_020791.4:c.996_998dup MANE Select	NP_065842.1:p.Glu333_Glu334insGlu