Canonical Allele Identifier: CA3650090
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs777235509

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130740del , CM000668.2:g.18130740del GRCh38
NC_000006.11:g.18130971del , CM000668.1:g.18130971del GRCh37
NC_000006.10:g.18238950del NCBI36
NG_012137.2:g.29407del
NG_012137.3:g.29407del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.669del MANE Select ENSP00000312304.4:p.Phe223LeufsTer25
ENST00000309983.4:c.669del ENSP00000312304.4:p.Phe223LeufsTer25
NM_000367.3:c.669del NP_000358.1:p.Phe223LeufsTer25
XM_011514839.1:c.624del XP_011513141.1:p.Phe208LeufsTer25
XM_011514840.1:c.600del XP_011513142.1:p.Phe200LeufsTer25
NM_000367.4:c.669del NP_000358.1:p.Phe223LeufsTer25
NM_001346817.1:c.669del NP_001333746.1:p.Phe223LeufsTer25
NM_001346818.1:c.624del NP_001333747.1:p.Phe208LeufsTer25
NM_000367.5:c.669del MANE Select NP_000358.1:p.Phe223LeufsTer25