Canonical Allele Identifier: CA2677457496

Gene: TPMT

Linked Data

• gnomAD v4: 6-18130774-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130778del , CM000668.2:g.18130778del	GRCh38
NC_000006.11:g.18131009del , CM000668.1:g.18131009del	GRCh37
NC_000006.10:g.18238988del	NCBI36
NG_012137.2:g.29369del
NG_012137.3:g.29369del

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.631del MANE Select	ENSP00000312304.4:p.Ile211TyrfsTer?
ENST00000309983.4:c.631del	ENSP00000312304.4:p.Ile211TyrfsTer?
NM_000367.3:c.631del	NP_000358.1:p.Ile211TyrfsTer?
XM_011514839.1:c.586del	XP_011513141.1:p.Ile196TyrfsTer?
XM_011514840.1:c.562del	XP_011513142.1:p.Ile188TyrfsTer?
NM_000367.4:c.631del	NP_000358.1:p.Ile211TyrfsTer?
NM_001346817.1:c.631del	NP_001333746.1:p.Ile211TyrfsTer?
NM_001346818.1:c.586del	NP_001333747.1:p.Ile196TyrfsTer?
NM_000367.5:c.631del MANE Select	NP_000358.1:p.Ile211TyrfsTer?