Canonical Allele Identifier: CA822716739

Gene: TPMT

Linked Data

• dbSNP Id: rs1360098907
• gnomAD v3: 6-18139595-C-CCACT
• gnomAD v4: 6-18139595-C-CCACT
• MyVariant Identifiers: chr6:g.18139826_18139827insCACT (hg19) ; chr6:g.18139595_18139596insCACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139597_18139600dup , CM000668.2:g.18139597_18139600dup	GRCh38
NC_000006.11:g.18139828_18139831dup , CM000668.1:g.18139828_18139831dup	GRCh37
NC_000006.10:g.18247807_18247810dup	NCBI36
NG_012137.2:g.20545_20548dup
NG_012137.3:g.20545_20548dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.419+66_419+69dup MANE Select	ENSP00000312304.4:n.419+66_419+69dup
ENST00000309983.4:c.419+66_419+69dup	ENSP00000312304.4:n.419+66_419+69dup
NM_000367.3:c.419+66_419+69dup	NP_000358.1:n.419+66_419+69dup
XM_011514839.1:c.419+66_419+69dup	XP_011513141.1:n.419+66_419+69dup
XM_011514840.1:c.350+66_350+69dup	XP_011513142.1:n.350+66_350+69dup
NM_000367.4:c.419+66_419+69dup	NP_000358.1:n.419+66_419+69dup
NM_001346817.1:c.419+66_419+69dup	NP_001333746.1:n.419+66_419+69dup
NM_001346818.1:c.419+66_419+69dup	NP_001333747.1:n.419+66_419+69dup
NM_000367.5:c.419+66_419+69dup MANE Select	NP_000358.1:n.419+66_419+69dup