Canonical Allele Identifier: CA2677457366
Gene: TPMT HGNC NCBI

Linked Data

gnomAD v4: 6-18130534-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130536del , CM000668.2:g.18130536del GRCh38
NC_000006.11:g.18130767del , CM000668.1:g.18130767del GRCh37
NC_000006.10:g.18238746del NCBI36
NG_012137.2:g.29609del
NG_012137.3:g.29609del

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.*133del MANE Select ENSP00000312304.4:n.*133del
ENST00000309983.4:c.*133del ENSP00000312304.4:n.*133del
NM_000367.3:c.*133del NP_000358.1:n.*133del
XM_011514839.1:c.*133del XP_011513141.1:n.*133del
XM_011514840.1:c.*133del XP_011513142.1:n.*133del
NM_000367.4:c.*133del NP_000358.1:n.*133del
NM_001346817.1:c.*133del NP_001333746.1:n.*133del
NM_001346818.1:c.*133del NP_001333747.1:n.*133del
NM_000367.5:c.*133del MANE Select NP_000358.1:n.*133del
Search 100 bp 5'
Search 100 bp 3'