Canonical Allele Identifier: CA448764670

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130930_18130936del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130700_18130706del , CM000668.2:g.18130700_18130706del	GRCh38
NC_000006.11:g.18130931_18130937del , CM000668.1:g.18130931_18130937del	GRCh37
NC_000006.10:g.18238910_18238916del	NCBI36
NG_012137.2:g.29439_29445del
NG_012137.3:g.29439_29445del

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.701_707del MANE Select	ENSP00000312304.4:p.Cys234LeufsTer12
ENST00000309983.4:c.701_707del	ENSP00000312304.4:p.Cys234LeufsTer12
NM_000367.3:c.701_707del	NP_000358.1:p.Cys234LeufsTer12
XM_011514839.1:c.656_662del	XP_011513141.1:p.Cys219LeufsTer12
XM_011514840.1:c.632_638del	XP_011513142.1:p.Cys211LeufsTer12
NM_000367.4:c.701_707del	NP_000358.1:p.Cys234LeufsTer12
NM_001346817.1:c.701_707del	NP_001333746.1:p.Cys234LeufsTer12
NM_001346818.1:c.656_662del	NP_001333747.1:p.Cys219LeufsTer12
NM_000367.5:c.701_707del MANE Select	NP_000358.1:p.Cys234LeufsTer12