Canonical Allele Identifier: CA1086470900

Gene: TPMT

Linked Data

• dbSNP Id: rs772191669
• gnomAD v3: 6-18138941-CAA-C
• gnomAD v4: 6-18138941-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18138947_18138948del , CM000668.2:g.18138947_18138948del	GRCh38
NC_000006.11:g.18139178_18139179del , CM000668.1:g.18139178_18139179del	GRCh37
NC_000006.10:g.18247157_18247158del	NCBI36
NG_012137.2:g.21201_21202del
NG_012137.3:g.21201_21202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.494+20_494+21del MANE Select	ENSP00000312304.4:n.494+20_494+21del
ENST00000309983.4:c.494+20_494+21del	ENSP00000312304.4:n.494+20_494+21del
NM_000367.3:c.494+20_494+21del	NP_000358.1:n.494+20_494+21del
XM_011514839.1:c.494+20_494+21del	XP_011513141.1:n.494+20_494+21del
XM_011514840.1:c.425+20_425+21del	XP_011513142.1:n.425+20_425+21del
NM_000367.4:c.494+20_494+21del	NP_000358.1:n.494+20_494+21del
NM_001346817.1:c.494+20_494+21del	NP_001333746.1:n.494+20_494+21del
NM_001346818.1:c.494+20_494+21del	NP_001333747.1:n.494+20_494+21del
NM_000367.5:c.494+20_494+21del MANE Select	NP_000358.1:n.494+20_494+21del