Canonical Allele Identifier: CA2677457472

Gene: TPMT

Linked Data

• gnomAD v4: 6-18138905-AAAAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18138907_18138911del , CM000668.2:g.18138907_18138911del	GRCh38
NC_000006.11:g.18139138_18139142del , CM000668.1:g.18139138_18139142del	GRCh37
NC_000006.10:g.18247117_18247121del	NCBI36
NG_012137.2:g.21234_21238del
NG_012137.3:g.21234_21238del

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.494+53_494+57del MANE Select	ENSP00000312304.4:n.494+53_494+57del
ENST00000309983.4:c.494+53_494+57del	ENSP00000312304.4:n.494+53_494+57del
NM_000367.3:c.494+53_494+57del	NP_000358.1:n.494+53_494+57del
XM_011514839.1:c.494+53_494+57del	XP_011513141.1:n.494+53_494+57del
XM_011514840.1:c.425+53_425+57del	XP_011513142.1:n.425+53_425+57del
NM_000367.4:c.494+53_494+57del	NP_000358.1:n.494+53_494+57del
NM_001346817.1:c.494+53_494+57del	NP_001333746.1:n.494+53_494+57del
NM_001346818.1:c.494+53_494+57del	NP_001333747.1:n.494+53_494+57del
NM_000367.5:c.494+53_494+57del MANE Select	NP_000358.1:n.494+53_494+57del