Canonical Allele Identifier: CA2677457329

Gene: TPMT

Linked Data

• gnomAD v4: 6-18130471-AAGTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130476_18130480del , CM000668.2:g.18130476_18130480del	GRCh38
NC_000006.11:g.18130707_18130711del , CM000668.1:g.18130707_18130711del	GRCh37
NC_000006.10:g.18238686_18238690del	NCBI36
NG_012137.2:g.29668_29672del
NG_012137.3:g.29668_29672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.*192_*196del MANE Select	ENSP00000312304.4:n.*192_*196del
ENST00000309983.4:c.*192_*196del	ENSP00000312304.4:n.*192_*196del
NM_000367.3:c.*192_*196del	NP_000358.1:n.*192_*196del
XM_011514839.1:c.*192_*196del	XP_011513141.1:n.*192_*196del
XM_011514840.1:c.*192_*196del	XP_011513142.1:n.*192_*196del
NM_000367.4:c.*192_*196del	NP_000358.1:n.*192_*196del
NM_001346817.1:c.*192_*196del	NP_001333746.1:n.*192_*196del
NM_001346818.1:c.*192_*196del	NP_001333747.1:n.*192_*196del
NM_000367.5:c.*192_*196del MANE Select	NP_000358.1:n.*192_*196del