Canonical Allele Identifier: CA2677457495

Gene: TPMT

Linked Data

• gnomAD v4: 6-18138981-T-TTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18138982_18138983insAAT , CM000668.2:g.18138982_18138983insAAT	GRCh38
NC_000006.11:g.18139213_18139214insAAT , CM000668.1:g.18139213_18139214insAAT	GRCh37
NC_000006.10:g.18247192_18247193insAAT	NCBI36
NG_012137.2:g.21162_21163insTTA
NG_012137.3:g.21162_21163insTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.475_476insTTA MANE Select	ENSP00000312304.4:p.Ile158_Asn159insIle
ENST00000309983.4:c.475_476insTTA	ENSP00000312304.4:p.Ile158_Asn159insIle
NM_000367.3:c.475_476insTTA	NP_000358.1:p.Ile158_Asn159insIle
XM_011514839.1:c.475_476insTTA	XP_011513141.1:p.Ile158_Asn159insIle
XM_011514840.1:c.406_407insTTA	XP_011513142.1:p.Ile135_Asn136insIle
NM_000367.4:c.475_476insTTA	NP_000358.1:p.Ile158_Asn159insIle
NM_001346817.1:c.475_476insTTA	NP_001333746.1:p.Ile158_Asn159insIle
NM_001346818.1:c.475_476insTTA	NP_001333747.1:p.Ile158_Asn159insIle
NM_000367.5:c.475_476insTTA MANE Select	NP_000358.1:p.Ile158_Asn159insIle