Canonical Allele Identifier: CA2578538837

Gene: TPMT

Linked Data

• gnomAD v4: 6-18139008-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139011del , CM000668.2:g.18139011del	GRCh38
NC_000006.11:g.18139242del , CM000668.1:g.18139242del	GRCh37
NC_000006.10:g.18247221del	NCBI36
NG_012137.2:g.21135del
NG_012137.3:g.21135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.448del MANE Select	ENSP00000312304.4:p.Trp150GlyfsTer6
ENST00000309983.4:c.448del	ENSP00000312304.4:p.Trp150GlyfsTer6
NM_000367.3:c.448del	NP_000358.1:p.Trp150GlyfsTer6
XM_011514839.1:c.448del	XP_011513141.1:p.Trp150GlyfsTer6
XM_011514840.1:c.379del	XP_011513142.1:p.Trp127GlyfsTer6
NM_000367.4:c.448del	NP_000358.1:p.Trp150GlyfsTer6
NM_001346817.1:c.448del	NP_001333746.1:p.Trp150GlyfsTer6
NM_001346818.1:c.448del	NP_001333747.1:p.Trp150GlyfsTer6
NM_000367.5:c.448del MANE Select	NP_000358.1:p.Trp150GlyfsTer6