Canonical Allele Identifier: CA2739265699
Gene: TRMU HGNC NCBI

Linked Data

ClinVar Variation Id: 2833222
ClinVar RCV Id: RCV003691872

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46352345_46352346del , CM000684.2:g.46352345_46352346del GRCh38
NC_000022.10:g.46748242_46748243del , CM000684.1:g.46748242_46748243del GRCh37
NC_000022.9:g.45126906_45126907del NCBI36
NG_012173.1:g.21945_21946del

Transcript Alleles

HGVS Amino-acid Change
ENST00000465378.6:n.835_836del
ENST00000642923.1:c.667+15_667+16del ENSP00000494255.1:n.667+15_667+16del
ENST00000643137.1:c.667+15_667+16del ENSP00000495331.1:n.667+15_667+16del
ENST00000644006.1:c.*216+15_*216+16del ENSP00000493778.1:n.*216+15_*216+16del
ENST00000645026.1:n.823+15_823+16del
ENST00000645190.1:c.772+15_772+16del MANE Select ENSP00000496496.1:n.772+15_772+16del
ENST00000647301.1:c.*216+15_*216+16del ENSP00000496641.1:n.*216+15_*216+16del
ENST00000290846.8:c.772+15_772+16del ENSP00000290846.4:n.772+15_772+16del
ENST00000381019.3:c.772+15_772+16del ENSP00000370407.3:n.772+15_772+16del
ENST00000381021.7:c.*365+15_*365+16del ENSP00000370409.3:n.*365+15_*365+16del
ENST00000441818.5:c.*306+15_*306+16del ENSP00000393014.1:n.*306+15_*306+16del
ENST00000453630.5:c.*310+15_*310+16del ENSP00000398488.1:n.*310+15_*310+16del
ENST00000456595.5:c.*306+15_*306+16del ENSP00000413880.1:n.*306+15_*306+16del
ENST00000457572.5:c.*216+15_*216+16del ENSP00000407700.1:n.*216+15_*216+16del
ENST00000463785.1:n.240+15_240+16del
NM_001282782.1:c.430+15_430+16del NP_001269711.1:n.430+15_430+16del
NM_001282783.1:c.352+15_352+16del NP_001269712.1:n.352+15_352+16del
NM_001282784.1:c.352+15_352+16del NP_001269713.1:n.352+15_352+16del
NM_001282785.1:c.772+15_772+16del NP_001269714.1:n.772+15_772+16del
NM_018006.4:c.772+15_772+16del NP_060476.2:n.772+15_772+16del
NR_104240.1:n.1081+15_1081+16del
NR_104241.1:n.974+15_974+16del
XM_005261678.1:c.376+15_376+16del XP_005261735.1:n.376+15_376+16del
XM_005261681.1:c.376+15_376+16del XP_005261738.1:n.376+15_376+16del
XM_011530271.1:c.667+15_667+16del XP_011528573.1:n.667+15_667+16del
XM_011530272.1:c.772+15_772+16del XP_011528574.1:n.772+15_772+16del
XM_011530273.1:c.772+15_772+16del XP_011528575.1:n.772+15_772+16del
XM_011530274.1:c.430+15_430+16del XP_011528576.1:n.430+15_430+16del
XM_011530275.1:c.376+15_376+16del XP_011528577.1:n.376+15_376+16del
XM_011530271.2:c.667+15_667+16del XP_011528573.1:n.667+15_667+16del
XM_011530272.2:c.772+15_772+16del XP_011528574.1:n.772+15_772+16del
XM_011530273.2:c.772+15_772+16del XP_011528575.1:n.772+15_772+16del
XM_011530274.2:c.430+15_430+16del XP_011528576.1:n.430+15_430+16del
XM_024452260.1:c.667+15_667+16del XP_024308028.1:n.667+15_667+16del
XR_001755261.2:n.818+15_818+16del
XR_001755262.2:n.818+15_818+16del
NM_018006.5:c.772+15_772+16del MANE Select NP_060476.2:n.772+15_772+16del
NM_001282782.2:c.430+15_430+16del NP_001269711.1:n.430+15_430+16del
NM_001282783.2:c.352+15_352+16del NP_001269712.1:n.352+15_352+16del
NM_001282784.2:c.352+15_352+16del NP_001269713.1:n.352+15_352+16del
NM_001282785.2:c.772+15_772+16del NP_001269714.1:n.772+15_772+16del
NR_104240.2:n.768+15_768+16del
NR_104241.2:n.661+15_661+16del