Canonical Allele Identifier: CA2677457722

Gene: TPMT

Linked Data

• gnomAD v4: 6-18139516-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139521del , CM000668.2:g.18139521del	GRCh38
NC_000006.11:g.18139752del , CM000668.1:g.18139752del	GRCh37
NC_000006.10:g.18247731del	NCBI36
NG_012137.2:g.20627del
NG_012137.3:g.20627del

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.419+148del MANE Select	ENSP00000312304.4:n.419+148del
ENST00000309983.4:c.419+148del	ENSP00000312304.4:n.419+148del
NM_000367.3:c.419+148del	NP_000358.1:n.419+148del
XM_011514839.1:c.419+148del	XP_011513141.1:n.419+148del
XM_011514840.1:c.350+148del	XP_011513142.1:n.350+148del
NM_000367.4:c.419+148del	NP_000358.1:n.419+148del
NM_001346817.1:c.419+148del	NP_001333746.1:n.419+148del
NM_001346818.1:c.419+148del	NP_001333747.1:n.419+148del
NM_000367.5:c.419+148del MANE Select	NP_000358.1:n.419+148del