Canonical Allele Identifier: CA9237956
Gene: TRMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13112967_13112998del , CM000681.2:g.13112967_13112998del GRCh38
NC_000019.9:g.13223781_13223812del , CM000681.1:g.13223781_13223812del GRCh37
NC_000019.8:g.13084781_13084812del NCBI36
NG_054900.1:g.9572_9603del

Transcript Alleles

HGVS Amino-acid Change
NM_001136035.4:c.657_688del MANE Select NP_001129507.1:p.Gln219HisfsTer22
ENST00000357720.9:c.657_688del MANE Select ENSP00000350352.4:p.Gln219HisfsTer22
NM_001136035.2:c.657_688del NP_001129507.1:p.Gln219HisfsTer22
NM_001136035.3:c.657_688del NP_001129507.1:p.Gln219HisfsTer22
NM_001142554.1:c.657_688del NP_001136026.1:p.Gln219HisfsTer22
NM_001142554.2:c.657_688del NP_001136026.1:p.Gln219HisfsTer22
NM_001142554.3:c.657_688del NP_001136026.1:p.Gln219HisfsTer22
NM_001351760.1:c.657_688del NP_001338689.1:p.Gln219HisfsTer22
NM_001351760.2:c.657_688del NP_001338689.1:p.Gln219HisfsTer22
NM_001351761.1:c.549_580del NP_001338690.1:p.Gln183HisfsTer22
NM_001351761.2:c.549_580del NP_001338690.1:p.Gln183HisfsTer22
NM_001351762.1:c.-114_-83del NP_001338691.1:n.-114_-83del
NM_001351762.2:c.-114_-83del NP_001338691.1:n.-114_-83del
NM_017722.3:c.657_688del NP_060192.1:p.Gln219HisfsTer22
NM_017722.4:c.657_688del NP_060192.1:p.Gln219HisfsTer22
NM_017722.5:c.657_688del NP_060192.1:p.Gln219HisfsTer22
ENST00000221504.12:c.657_688del ENSP00000221504.7:p.Gln219HisfsTer22
ENST00000357720.8:c.657_688del ENSP00000350352.4:p.Gln219HisfsTer22
ENST00000437766.5:c.657_688del ENSP00000416149.1:p.Gln219HisfsTer22
ENST00000587487.5:c.15_46del ENSP00000465370.1:p.Gln5HisfsTer22
ENST00000587633.1:c.314_345del ENSP00000466716.1:n.314_345del
ENST00000588511.5:n.855_886del
ENST00000592062.5:c.657_688del ENSP00000466967.1:p.Gln219HisfsTer22
ENST00000592814.5:c.657_688del ENSP00000467938.1:p.Gln219HisfsTer?
ENST00000593157.5:n.686_717del
ENST00000593257.1:n.367_398del
XM_005259983.1:c.657_688del XP_005260040.1:p.Gln219HisfsTer22
XM_006722793.2:c.15_46del XP_006722856.1:p.Gln5HisfsTer22
XM_011528124.1:c.549_580del XP_011526426.1:p.Gln183HisfsTer22
XM_011528125.1:c.15_46del XP_011526427.1:p.Gln5HisfsTer22
XM_011528126.1:c.-114_-83del XP_011526428.1:n.-114_-83del
XM_024451587.1:c.15_46del XP_024307355.1:p.Gln5HisfsTer22
XM_024451588.1:c.15_46del XP_024307356.1:p.Gln5HisfsTer22
XM_024451589.1:c.15_46del XP_024307357.1:p.Gln5HisfsTer22
XM_024451590.1:c.15_46del XP_024307358.1:p.Gln5HisfsTer22
XM_024451591.1:c.-114_-83del XP_024307359.1:n.-114_-83del
XM_024451592.1:c.-114_-83del XP_024307360.1:n.-114_-83del
XM_024451593.1:c.-114_-83del XP_024307361.1:n.-114_-83del
XR_002958328.1:n.783_814del
XR_002958329.1:n.482_513del