Canonical Allele Identifier: CA2408700853

Gene: TRMU

Linked Data

• ClinVar Variation Id: 2434263
• ClinVar RCV Id: RCV003131773 ; RCV003561182
• dbSNP Id: rs2078453451
• gnomAD v4: 22-46352268-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352269dup , CM000684.2:g.46352269dup	GRCh38
NC_000022.10:g.46748166dup , CM000684.1:g.46748166dup	GRCh37
NC_000022.9:g.45126830dup	NCBI36
NG_012173.1:g.21869dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.759dup
ENST00000642923.1:c.606dup	ENSP00000494255.1:p.Gln203AlafsTer14
ENST00000643137.1:c.606dup	ENSP00000495331.1:p.Gln203AlafsTer14
ENST00000644006.1:c.*155dup	ENSP00000493778.1:n.*155dup
ENST00000645026.1:n.762dup
ENST00000645190.1:c.711dup MANE Select	ENSP00000496496.1:p.Gln238AlafsTer14
ENST00000647301.1:c.*155dup	ENSP00000496641.1:n.*155dup
ENST00000290846.8:c.711dup	ENSP00000290846.4:p.Gln238AlafsTer14
ENST00000381019.3:c.711dup	ENSP00000370407.3:p.Gln238AlafsTer14
ENST00000381021.7:c.*304dup	ENSP00000370409.3:n.*304dup
ENST00000441818.5:c.*245dup	ENSP00000393014.1:n.*245dup
ENST00000453630.5:c.*249dup	ENSP00000398488.1:n.*249dup
ENST00000456595.5:c.*245dup	ENSP00000413880.1:n.*245dup
ENST00000457572.5:c.*155dup	ENSP00000407700.1:n.*155dup
ENST00000463785.1:n.179dup
ENST00000479648.1:n.531dup
ENST00000485175.5:n.671dup
ENST00000486620.5:n.753dup
NM_001282782.1:c.369dup	NP_001269711.1:p.Gln124AlafsTer14
NM_001282783.1:c.291dup	NP_001269712.1:p.Gln98AlafsTer14
NM_001282784.1:c.291dup	NP_001269713.1:p.Gln98AlafsTer14
NM_001282785.1:c.711dup	NP_001269714.1:p.Gln238AlafsTer14
NM_018006.4:c.711dup	NP_060476.2:p.Gln238AlafsTer14
NR_104240.1:n.1020dup
NR_104241.1:n.913dup
XM_005261678.1:c.315dup	XP_005261735.1:p.Gln106AlafsTer14
XM_005261681.1:c.315dup	XP_005261738.1:p.Gln106AlafsTer14
XM_011530271.1:c.606dup	XP_011528573.1:p.Gln203AlafsTer14
XM_011530272.1:c.711dup	XP_011528574.1:p.Gln238AlafsTer14
XM_011530273.1:c.711dup	XP_011528575.1:p.Gln238AlafsTer14
XM_011530274.1:c.369dup	XP_011528576.1:p.Gln124AlafsTer14
XM_011530275.1:c.315dup	XP_011528577.1:p.Gln106AlafsTer14
XM_011530271.2:c.606dup	XP_011528573.1:p.Gln203AlafsTer14
XM_011530272.2:c.711dup	XP_011528574.1:p.Gln238AlafsTer14
XM_011530273.2:c.711dup	XP_011528575.1:p.Gln238AlafsTer14
XM_011530274.2:c.369dup	XP_011528576.1:p.Gln124AlafsTer14
XM_024452260.1:c.606dup	XP_024308028.1:p.Gln203AlafsTer14
XR_001755261.2:n.757dup
XR_001755262.2:n.757dup
NM_018006.5:c.711dup MANE Select	NP_060476.2:p.Gln238AlafsTer14
NM_001282782.2:c.369dup	NP_001269711.1:p.Gln124AlafsTer14
NM_001282783.2:c.291dup	NP_001269712.1:p.Gln98AlafsTer14
NM_001282784.2:c.291dup	NP_001269713.1:p.Gln98AlafsTer14
NM_001282785.2:c.711dup	NP_001269714.1:p.Gln238AlafsTer14
NR_104240.2:n.707dup
NR_104241.2:n.600dup