Canonical Allele Identifier: CA2770170776
Gene: TPMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130371_18130375del , CM000668.2:g.18130371_18130375del GRCh38
NC_000006.11:g.18130602_18130606del , CM000668.1:g.18130602_18130606del GRCh37
NC_000006.10:g.18238581_18238585del NCBI36
NG_012137.2:g.29769_29773del
NG_012137.3:g.29769_29773del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.*293_*297del MANE Select ENSP00000312304.4:n.*293_*297del
ENST00000309983.4:c.*293_*297del ENSP00000312304.4:n.*293_*297del
NM_000367.3:c.*293_*297del NP_000358.1:n.*293_*297del
XM_011514839.1:c.*293_*297del XP_011513141.1:n.*293_*297del
XM_011514840.1:c.*293_*297del XP_011513142.1:n.*293_*297del
NM_000367.4:c.*293_*297del NP_000358.1:n.*293_*297del
NM_001346817.1:c.*293_*297del NP_001333746.1:n.*293_*297del
NM_001346818.1:c.*293_*297del NP_001333747.1:n.*293_*297del
NM_000367.5:c.*293_*297del MANE Select NP_000358.1:n.*293_*297del