Canonical Allele Identifier: CA625669992

Gene: TAOK1

Linked Data

• dbSNP Id: rs1444638099
• gnomAD v2: 17-27822379-TAAAG-T
• gnomAD v3: 17-29495361-TAAAG-T
• gnomAD v4: 17-29495361-TAAAG-T
• MyVariant Identifiers: chr17:g.27822380_27822383del (hg19) ; chr17:g.29495362_29495365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29495365_29495368del , CM000679.2:g.29495365_29495368del	GRCh38
NC_000017.10:g.27822383_27822386del , CM000679.1:g.27822383_27822386del	GRCh37
NC_000017.9:g.24846509_24846512del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000261716.8:c.832-195_832-192del MANE Select	ENSP00000261716.3:n.832-195_832-192del
ENST00000261716.7:c.832-195_832-192del	ENSP00000261716.3:n.832-195_832-192del
ENST00000536202.1:c.832-195_832-192del	ENSP00000438819.1:n.832-195_832-192del
ENST00000577583.1:n.680-195_680-192del
NM_020791.2:c.832-195_832-192del	NP_065842.1:n.832-195_832-192del
NM_025142.1:c.832-195_832-192del	NP_079418.1:n.832-195_832-192del
XM_011525060.1:c.832-195_832-192del	XP_011523362.1:n.832-195_832-192del
XM_011525060.2:c.832-195_832-192del	XP_011523362.1:n.832-195_832-192del
NM_020791.4:c.832-195_832-192del MANE Select	NP_065842.1:n.832-195_832-192del