Canonical Allele Identifier: CA822716420

Gene: TPMT

Linked Data

• dbSNP Id: rs1419856318
• gnomAD v3: 6-18138996-G-GCTC
• gnomAD v4: 6-18138996-G-GCTC
• MyVariant Identifiers: chr6:g.18139227_18139228insCTC (hg19) ; chr6:g.18138996_18138997insCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139000_18139002dup , CM000668.2:g.18139000_18139002dup	GRCh38
NC_000006.11:g.18139231_18139233dup , CM000668.1:g.18139231_18139233dup	GRCh37
NC_000006.10:g.18247210_18247212dup	NCBI36
NG_012137.2:g.21145_21147dup
NG_012137.3:g.21145_21147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.458_460dup MANE Select	ENSP00000312304.4:p.Gly153_Ala154insGly
ENST00000309983.4:c.458_460dup	ENSP00000312304.4:p.Gly153_Ala154insGly
NM_000367.3:c.458_460dup	NP_000358.1:p.Gly153_Ala154insGly
XM_011514839.1:c.458_460dup	XP_011513141.1:p.Gly153_Ala154insGly
XM_011514840.1:c.389_391dup	XP_011513142.1:p.Gly130_Ala131insGly
NM_000367.4:c.458_460dup	NP_000358.1:p.Gly153_Ala154insGly
NM_001346817.1:c.458_460dup	NP_001333746.1:p.Gly153_Ala154insGly
NM_001346818.1:c.458_460dup	NP_001333747.1:p.Gly153_Ala154insGly
NM_000367.5:c.458_460dup MANE Select	NP_000358.1:p.Gly153_Ala154insGly