Canonical Allele Identifier: CA2578538780

Gene: TPMT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130681del , CM000668.2:g.18130681del	GRCh38
NC_000006.11:g.18130912del , CM000668.1:g.18130912del	GRCh37
NC_000006.10:g.18238891del	NCBI36
NG_012137.2:g.29464del
NG_012137.3:g.29464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.726del MANE Select	ENSP00000312304.4:p.Thr243GlnfsTer5
ENST00000309983.4:c.726del	ENSP00000312304.4:p.Thr243GlnfsTer5
NM_000367.3:c.726del	NP_000358.1:p.Thr243GlnfsTer5
XM_011514839.1:c.681del	XP_011513141.1:p.Thr228GlnfsTer5
XM_011514840.1:c.657del	XP_011513142.1:p.Thr220GlnfsTer5
NM_000367.4:c.726del	NP_000358.1:p.Thr243GlnfsTer5
NM_001346817.1:c.726del	NP_001333746.1:p.Thr243GlnfsTer5
NM_001346818.1:c.681del	NP_001333747.1:p.Thr228GlnfsTer5
NM_000367.5:c.726del MANE Select	NP_000358.1:p.Thr243GlnfsTer5