Canonical Allele Identifier: CA2530385263

Gene: TPMT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139006_18139007insACTTT , CM000668.2:g.18139006_18139007insACTTT	GRCh38
NC_000006.11:g.18139237_18139238insACTTT , CM000668.1:g.18139237_18139238insACTTT	GRCh37
NC_000006.10:g.18247216_18247217insACTTT	NCBI36
NG_012137.2:g.21137_21138insAAAGT
NG_012137.3:g.21137_21138insAAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.450_451insAAAGT MANE Select	ENSP00000312304.4:p.Asp151LysfsTer7
ENST00000309983.4:c.450_451insAAAGT	ENSP00000312304.4:p.Asp151LysfsTer7
NM_000367.3:c.450_451insAAAGT	NP_000358.1:p.Asp151LysfsTer7
XM_011514839.1:c.450_451insAAAGT	XP_011513141.1:p.Asp151LysfsTer7
XM_011514840.1:c.381_382insAAAGT	XP_011513142.1:p.Asp128LysfsTer7
NM_000367.4:c.450_451insAAAGT	NP_000358.1:p.Asp151LysfsTer7
NM_001346817.1:c.450_451insAAAGT	NP_001333746.1:p.Asp151LysfsTer7
NM_001346818.1:c.450_451insAAAGT	NP_001333747.1:p.Asp151LysfsTer7
NM_000367.5:c.450_451insAAAGT MANE Select	NP_000358.1:p.Asp151LysfsTer7