Canonical Allele Identifier: CA2677457429
Gene: TPMT HGNC NCBI

Linked Data

gnomAD v4: 6-18130645-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130649del , CM000668.2:g.18130649del GRCh38
NC_000006.11:g.18130880del , CM000668.1:g.18130880del GRCh37
NC_000006.10:g.18238859del NCBI36
NG_012137.2:g.29498del
NG_012137.3:g.29498del

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.*22del MANE Select ENSP00000312304.4:n.*22del
ENST00000309983.4:c.*22del ENSP00000312304.4:n.*22del
NM_000367.3:c.*22del NP_000358.1:n.*22del
XM_011514839.1:c.*22del XP_011513141.1:n.*22del
XM_011514840.1:c.*22del XP_011513142.1:n.*22del
NM_000367.4:c.*22del NP_000358.1:n.*22del
NM_001346817.1:c.*22del NP_001333746.1:n.*22del
NM_001346818.1:c.*22del NP_001333747.1:n.*22del
NM_000367.5:c.*22del MANE Select NP_000358.1:n.*22del
Search 100 bp 5'
Search 100 bp 3'