Canonical Allele Identifier: CA625425699

Gene: TAOK1

Linked Data

• dbSNP Id: rs1292524596
• gnomAD v2: 17-27857419-TCCCAG-T
• gnomAD v4: 17-29530401-TCCCAG-T
• MyVariant Identifiers: chr17:g.27857420_27857424del (hg19) ; chr17:g.29530402_29530406del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29530402_29530406del , CM000679.2:g.29530402_29530406del	GRCh38
NC_000017.10:g.27857420_27857424del , CM000679.1:g.27857420_27857424del	GRCh37
NC_000017.9:g.24881546_24881550del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261716.8:c.2149-5_2149-1del MANE Select	ENSP00000261716.3:n.2149-5_2149-1del
ENST00000261716.7:c.2149-5_2149-1del	ENSP00000261716.3:n.2149-5_2149-1del
ENST00000536202.1:c.1705-5_1705-1del	ENSP00000438819.1:n.1705-5_1705-1del
ENST00000578653.1:n.233-5_233-1del
NM_020791.2:c.2149-5_2149-1del	NP_065842.1:n.2149-5_2149-1del
NM_025142.1:c.1705-5_1705-1del	NP_079418.1:n.1705-5_1705-1del
XM_011525060.1:c.2149-5_2149-1del	XP_011523362.1:n.2149-5_2149-1del
XM_011525060.2:c.2149-5_2149-1del	XP_011523362.1:n.2149-5_2149-1del
NM_020791.4:c.2149-5_2149-1del MANE Select	NP_065842.1:n.2149-5_2149-1del