Canonical Allele Identifier: CA2578538827
Gene: TPMT HGNC NCBI

Linked Data

gnomAD v4: 6-18138941-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18138948dup , CM000668.2:g.18138948dup GRCh38
NC_000006.11:g.18139179dup , CM000668.1:g.18139179dup GRCh37
NC_000006.10:g.18247158dup NCBI36
NG_012137.2:g.21202dup
NG_012137.3:g.21202dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.494+21dup MANE Select ENSP00000312304.4:n.494+21dup
ENST00000309983.4:c.494+21dup ENSP00000312304.4:n.494+21dup
NM_000367.3:c.494+21dup NP_000358.1:n.494+21dup
XM_011514839.1:c.494+21dup XP_011513141.1:n.494+21dup
XM_011514840.1:c.425+21dup XP_011513142.1:n.425+21dup
NM_000367.4:c.494+21dup NP_000358.1:n.494+21dup
NM_001346817.1:c.494+21dup NP_001333746.1:n.494+21dup
NM_001346818.1:c.494+21dup NP_001333747.1:n.494+21dup
NM_000367.5:c.494+21dup MANE Select NP_000358.1:n.494+21dup
Search 100 bp 5'
Search 100 bp 3'