Canonical Allele Identifier: CA822716303
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs1446087791

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18138829_18138844del , CM000668.2:g.18138829_18138844del GRCh38
NC_000006.11:g.18139060_18139075del , CM000668.1:g.18139060_18139075del GRCh37
NC_000006.10:g.18247039_18247054del NCBI36
NG_012137.2:g.21303_21318del
NG_012137.3:g.21303_21318del

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.494+122_494+137del MANE Select ENSP00000312304.4:n.494+122_494+137del
ENST00000309983.4:c.494+122_494+137del ENSP00000312304.4:n.494+122_494+137del
NM_000367.3:c.494+122_494+137del NP_000358.1:n.494+122_494+137del
XM_011514839.1:c.494+122_494+137del XP_011513141.1:n.494+122_494+137del
XM_011514840.1:c.425+122_425+137del XP_011513142.1:n.425+122_425+137del
NM_000367.4:c.494+122_494+137del NP_000358.1:n.494+122_494+137del
NM_001346817.1:c.494+122_494+137del NP_001333746.1:n.494+122_494+137del
NM_001346818.1:c.494+122_494+137del NP_001333747.1:n.494+122_494+137del
NM_000367.5:c.494+122_494+137del MANE Select NP_000358.1:n.494+122_494+137del