Canonical Allele Identifier: CA358413

Gene: TKT

Linked Data

• ClinVar Variation Id: 243092
• ClinVar RCV Id: RCV000210782 ; RCV000236308
• dbSNP Id: rs781905246
• ExAC: 3:53265545 C / CCAGAAGATAAGGAGGTAG
• gnomAD v2: 3-53265545-C-CCAGAAGATAAGGAGGTAG
• gnomAD v3: 3-53231529-C-CCAGAAGATAAGGAGGTAG
• gnomAD v4: 3-53231529-C-CCAGAAGATAAGGAGGTAG
• MyVariant Identifiers: chr3:g.53265545_53265546insCAGAAGATAAGGAGGTAG (hg19) ; chr3:g.53231529_53231530insCAGAAGATAAGGAGGTAG (hg38)
• PubMed: PMID:27259054

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53231529_53231530insCAGAAGATAAGGAGGTAG , CM000665.2:g.53231529_53231530insCAGAAGATAAGGAGGTAG	GRCh38
NC_000003.11:g.53265545_53265546insCAGAAGATAAGGAGGTAG , CM000665.1:g.53265545_53265546insCAGAAGATAAGGAGGTAG	GRCh37
NC_000003.10:g.53240585_53240586insCAGAAGATAAGGAGGTAG	NCBI36
NG_027815.1:g.29585_29586insCTACCTCCTTATCTTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462138.6:c.769_770insCTACCTCCTTATCTTCTG MANE Select	ENSP00000417773.1:p.Trp257delinsSerThrSerLeuSerSerGly
ENST00000296289.10:c.271_272insCTACCTCCTTATCTTCTG	ENSP00000296289.7:p.Trp91delinsSerThrSerLeuSerSerGly
ENST00000423516.5:c.793_794insCTACCTCCTTATCTTCTG	ENSP00000391481.1:p.Trp265delinsSerThrSerLeuSerSerGly
ENST00000423525.6:c.769_770insCTACCTCCTTATCTTCTG	ENSP00000405455.2:p.Trp257delinsSerThrSerLeuSerSerGly
ENST00000450814.6:c.*197_*198insCTACCTCCTTATCTTCTG	ENSP00000413503.2:n.*197_*198insCTACCTCCTTATCTTCTG
ENST00000460343.5:n.4078_4079insCTACCTCCTTATCTTCTG
ENST00000461139.5:n.770_771insCTACCTCCTTATCTTCTG
ENST00000462138.5:c.769_770insCTACCTCCTTATCTTCTG	ENSP00000417773.1:p.Trp257delinsSerThrSerLeuSerSerGly
ENST00000469678.1:c.769_770insCTACCTCCTTATCTTCTG	ENSP00000418340.1:p.Trp257delinsSerThrSerLeuSerSerGly
ENST00000472528.5:c.*688_*689insCTACCTCCTTATCTTCTG	ENSP00000417312.1:n.*688_*689insCTACCTCCTTATCTTCTG
ENST00000494523.2:n.1885_1886insCTACCTCCTTATCTTCTG
NM_001064.3:c.769_770insCTACCTCCTTATCTTCTG	NP_001055.1:p.Trp257delinsSerThrSerLeuSerSerGly
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG	NP_001128527.1:p.Trp257delinsSerThrSerLeuSerSerGly
NM_001258028.1:c.793_794insCTACCTCCTTATCTTCTG	NP_001244957.1:p.Trp265delinsSerThrSerLeuSerSerGly
NR_047580.1:n.831_832insCTACCTCCTTATCTTCTG
XM_011534054.1:c.793_794insCTACCTCCTTATCTTCTG	XP_011532356.1:p.Trp265delinsSerThrSerLeuSerSerGly
XM_011534055.1:c.271_272insCTACCTCCTTATCTTCTG	XP_011532357.1:p.Trp91delinsSerThrSerLeuSerSerGly
XM_011534055.2:c.271_272insCTACCTCCTTATCTTCTG	XP_011532357.1:p.Trp91delinsSerThrSerLeuSerSerGly
NM_001064.4:c.769_770insCTACCTCCTTATCTTCTG MANE Select	NP_001055.1:p.Trp257delinsSerThrSerLeuSerSerGly
NM_001135055.3:c.769_770insCTACCTCCTTATCTTCTG	NP_001128527.1:p.Trp257delinsSerThrSerLeuSerSerGly
NM_001258028.2:c.793_794insCTACCTCCTTATCTTCTG	NP_001244957.1:p.Trp265delinsSerThrSerLeuSerSerGly
NR_047580.2:n.739_740insCTACCTCCTTATCTTCTG