Canonical Allele Identifier: CA2695200140
Gene: TRMU HGNC NCBI

Linked Data

ClinVar Variation Id: 2679299
ClinVar RCV Id: RCV003474191

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46352295_46352296insT , CM000684.2:g.46352295_46352296insT GRCh38
NC_000022.10:g.46748192_46748193insT , CM000684.1:g.46748192_46748193insT GRCh37
NC_000022.9:g.45126856_45126857insT NCBI36
NG_012173.1:g.21895_21896insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000465378.6:n.785_786insT
ENST00000642923.1:c.632_633insT ENSP00000494255.1:p.Ile212HisfsTer5
ENST00000643137.1:c.632_633insT ENSP00000495331.1:p.Ile212HisfsTer5
ENST00000644006.1:c.*181_*182insT ENSP00000493778.1:n.*181_*182insT
ENST00000645026.1:n.788_789insT
ENST00000645190.1:c.737_738insT MANE Select ENSP00000496496.1:p.Ile247HisfsTer5
ENST00000647301.1:c.*181_*182insT ENSP00000496641.1:n.*181_*182insT
ENST00000290846.8:c.737_738insT ENSP00000290846.4:p.Ile247HisfsTer5
ENST00000381019.3:c.737_738insT ENSP00000370407.3:p.Ile247HisfsTer5
ENST00000381021.7:c.*330_*331insT ENSP00000370409.3:n.*330_*331insT
ENST00000441818.5:c.*271_*272insT ENSP00000393014.1:n.*271_*272insT
ENST00000453630.5:c.*275_*276insT ENSP00000398488.1:n.*275_*276insT
ENST00000456595.5:c.*271_*272insT ENSP00000413880.1:n.*271_*272insT
ENST00000457572.5:c.*181_*182insT ENSP00000407700.1:n.*181_*182insT
ENST00000463785.1:n.205_206insT
ENST00000479648.1:n.557_558insT
ENST00000485175.5:n.697_698insT
ENST00000486620.5:n.779_780insT
NM_001282782.1:c.395_396insT NP_001269711.1:p.Ile133HisfsTer5
NM_001282783.1:c.317_318insT NP_001269712.1:p.Ile107HisfsTer5
NM_001282784.1:c.317_318insT NP_001269713.1:p.Ile107HisfsTer5
NM_001282785.1:c.737_738insT NP_001269714.1:p.Ile247HisfsTer5
NM_018006.4:c.737_738insT NP_060476.2:p.Ile247HisfsTer5
NR_104240.1:n.1046_1047insT
NR_104241.1:n.939_940insT
XM_005261678.1:c.341_342insT XP_005261735.1:p.Ile115HisfsTer5
XM_005261681.1:c.341_342insT XP_005261738.1:p.Ile115HisfsTer5
XM_011530271.1:c.632_633insT XP_011528573.1:p.Ile212HisfsTer5
XM_011530272.1:c.737_738insT XP_011528574.1:p.Ile247HisfsTer5
XM_011530273.1:c.737_738insT XP_011528575.1:p.Ile247HisfsTer5
XM_011530274.1:c.395_396insT XP_011528576.1:p.Ile133HisfsTer5
XM_011530275.1:c.341_342insT XP_011528577.1:p.Ile115HisfsTer5
XM_011530271.2:c.632_633insT XP_011528573.1:p.Ile212HisfsTer5
XM_011530272.2:c.737_738insT XP_011528574.1:p.Ile247HisfsTer5
XM_011530273.2:c.737_738insT XP_011528575.1:p.Ile247HisfsTer5
XM_011530274.2:c.395_396insT XP_011528576.1:p.Ile133HisfsTer5
XM_024452260.1:c.632_633insT XP_024308028.1:p.Ile212HisfsTer5
XR_001755261.2:n.783_784insT
XR_001755262.2:n.783_784insT
NM_018006.5:c.737_738insT MANE Select NP_060476.2:p.Ile247HisfsTer5
NM_001282782.2:c.395_396insT NP_001269711.1:p.Ile133HisfsTer5
NM_001282783.2:c.317_318insT NP_001269712.1:p.Ile107HisfsTer5
NM_001282784.2:c.317_318insT NP_001269713.1:p.Ile107HisfsTer5
NM_001282785.2:c.737_738insT NP_001269714.1:p.Ile247HisfsTer5
NR_104240.2:n.733_734insT
NR_104241.2:n.626_627insT