Canonical Allele Identifier: CA10292166

Gene: TRMU

Linked Data

• ClinVar Variation Id: 2852647
• ClinVar RCV Id: RCV003693673
• dbSNP Id: rs755646665
• ExAC: 22:46748057 C / CATTTCCTTCTTCAG
• gnomAD v2: 22-46748057-C-CATTTCCTTCTTCAG
• gnomAD v3: 22-46352160-C-CATTTCCTTCTTCAG
• gnomAD v4: 22-46352160-C-CATTTCCTTCTTCAG
• MyVariant Identifiers: chr22:g.46748057_46748058insATTTCCTTCTTCAG (hg19) ; chr22:g.46352160_46352161insATTTCCTTCTTCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352161_46352174dup , CM000684.2:g.46352161_46352174dup	GRCh38
NC_000022.10:g.46748058_46748071dup , CM000684.1:g.46748058_46748071dup	GRCh37
NC_000022.9:g.45126722_45126735dup	NCBI36
NG_012173.1:g.21761_21774dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.740_753dup
ENST00000642923.1:c.587_600dup	ENSP00000494255.1:p.Tyr201IlefsTer17
ENST00000643137.1:c.587_600dup	ENSP00000495331.1:p.Tyr201IlefsTer17
ENST00000644006.1:c.*136_*149dup	ENSP00000493778.1:n.*136_*149dup
ENST00000645026.1:n.743_756dup
ENST00000645190.1:c.692_705dup MANE Select	ENSP00000496496.1:p.Tyr236IlefsTer17
ENST00000647301.1:c.*136_*149dup	ENSP00000496641.1:n.*136_*149dup
ENST00000290846.8:c.692_705dup	ENSP00000290846.4:p.Tyr236IlefsTer17
ENST00000381019.3:c.692_705dup	ENSP00000370407.3:p.Tyr236IlefsTer17
ENST00000381021.7:c.*285_*298dup	ENSP00000370409.3:n.*285_*298dup
ENST00000441818.5:c.*226_*239dup	ENSP00000393014.1:n.*226_*239dup
ENST00000453630.5:c.*230_*243dup	ENSP00000398488.1:n.*230_*243dup
ENST00000456595.5:c.*226_*239dup	ENSP00000413880.1:n.*226_*239dup
ENST00000457572.5:c.*136_*149dup	ENSP00000407700.1:n.*136_*149dup
ENST00000463785.1:n.160_173dup
ENST00000479648.1:n.512_525dup
ENST00000485175.5:n.652_665dup
ENST00000486620.5:n.734_747dup
NM_001282782.1:c.350_363dup	NP_001269711.1:p.Tyr122IlefsTer17
NM_001282783.1:c.272_285dup	NP_001269712.1:p.Tyr96IlefsTer17
NM_001282784.1:c.272_285dup	NP_001269713.1:p.Tyr96IlefsTer17
NM_001282785.1:c.692_705dup	NP_001269714.1:p.Tyr236IlefsTer17
NM_018006.4:c.692_705dup	NP_060476.2:p.Tyr236IlefsTer17
NR_104240.1:n.1001_1014dup
NR_104241.1:n.894_907dup
XM_005261678.1:c.296_309dup	XP_005261735.1:p.Tyr104IlefsTer17
XM_005261681.1:c.296_309dup	XP_005261738.1:p.Tyr104IlefsTer17
XM_011530271.1:c.587_600dup	XP_011528573.1:p.Tyr201IlefsTer17
XM_011530272.1:c.692_705dup	XP_011528574.1:p.Tyr236IlefsTer17
XM_011530273.1:c.692_705dup	XP_011528575.1:p.Tyr236IlefsTer17
XM_011530274.1:c.350_363dup	XP_011528576.1:p.Tyr122IlefsTer17
XM_011530275.1:c.296_309dup	XP_011528577.1:p.Tyr104IlefsTer17
XM_011530271.2:c.587_600dup	XP_011528573.1:p.Tyr201IlefsTer17
XM_011530272.2:c.692_705dup	XP_011528574.1:p.Tyr236IlefsTer17
XM_011530273.2:c.692_705dup	XP_011528575.1:p.Tyr236IlefsTer17
XM_011530274.2:c.350_363dup	XP_011528576.1:p.Tyr122IlefsTer17
XM_024452260.1:c.587_600dup	XP_024308028.1:p.Tyr201IlefsTer17
XR_001755261.2:n.738_751dup
XR_001755262.2:n.738_751dup
NM_018006.5:c.692_705dup MANE Select	NP_060476.2:p.Tyr236IlefsTer17
NM_001282782.2:c.350_363dup	NP_001269711.1:p.Tyr122IlefsTer17
NM_001282783.2:c.272_285dup	NP_001269712.1:p.Tyr96IlefsTer17
NM_001282784.2:c.272_285dup	NP_001269713.1:p.Tyr96IlefsTer17
NM_001282785.2:c.692_705dup	NP_001269714.1:p.Tyr236IlefsTer17
NR_104240.2:n.688_701dup
NR_104241.2:n.581_594dup