Canonical Allele Identifier: CA2526710510
Gene: MTRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7877952_7877953insC , CM000667.2:g.7877952_7877953insC GRCh38
NC_000005.9:g.7878065_7878066insC , CM000667.1:g.7878065_7878066insC GRCh37
NC_000005.8:g.7931065_7931066insC NCBI36
NG_008856.1:g.13849_13850insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.410_411insC MANE Select ENSP00000402510.2:p.Val138CysfsTer3
ENST00000264668.6:c.491_492insC ENSP00000264668.2:p.Val165CysfsTer3
ENST00000440940.6:c.410_411insC ENSP00000402510.2:p.Val138CysfsTer3
ENST00000502509.5:n.625_626insC
ENST00000502550.5:c.410_411insC ENSP00000424599.1:p.Val138CysfsTer3
ENST00000503550.5:c.*345_*346insC ENSP00000424644.1:n.*345_*346insC
ENST00000508047.5:c.463_464insC
ENST00000508890.1:n.223_224insC
ENST00000510279.5:c.*79_*80insC ENSP00000427200.1:n.*79_*80insC
ENST00000510525.5:c.435_436insC
ENST00000511461.5:c.323_324insC
ENST00000513439.5:c.*117_*118insC ENSP00000426710.1:n.*117_*118insC
ENST00000514220.5:c.195_196insC
ENST00000514369.5:c.*74_*75insC ENSP00000426132.1:n.*74_*75insC
NM_002454.2:c.410_411insC NP_002445.2:p.Val138CysfsTer3
NM_024010.2:c.491_492insC NP_076915.2:p.Val165CysfsTer3
XM_006714474.2:c.491_492insC XP_006714537.1:p.Val165CysfsTer3
XM_011514043.1:c.491_492insC XP_011512345.1:p.Val165CysfsTer3
XM_011514044.1:c.410_411insC XP_011512346.1:p.Val138CysfsTer3
XM_011514045.1:c.491_492insC XP_011512347.1:p.Val165CysfsTer3
XR_241702.1:n.513_514insC
XR_241703.1:n.506_507insC
XR_925614.1:n.513_514insC
XR_925615.1:n.513_514insC
NM_001364440.1:c.410_411insC NP_001351369.1:p.Val138CysfsTer3
NM_001364441.1:c.410_411insC NP_001351370.1:p.Val138CysfsTer3
NM_001364442.1:c.410_411insC NP_001351371.1:p.Val138CysfsTer3
NM_024010.3:c.410_411insC NP_076915.3:p.Val138CysfsTer3
NR_134480.1:n.533_534insC
NR_134481.1:n.547_548insC
NR_134482.1:n.393_394insC
NR_157168.1:n.463_464insC
NR_157169.1:n.323_324insC
NR_157170.1:n.349_350insC
NR_157171.1:n.323_324insC
NR_157172.1:n.349_350insC
NR_157173.1:n.477_478insC
NR_157174.1:n.349_350insC
NR_157175.1:n.503_504insC
NR_157176.1:n.503_504insC
NR_157177.1:n.498_499insC
NR_157178.1:n.503_504insC
XM_024446063.1:c.455_456insC XP_024301831.1:p.Val153CysfsTer3
XM_024446064.1:c.410_411insC XP_024301832.1:p.Val138CysfsTer3
XR_001742071.1:n.513_514insC
XR_001742072.1:n.513_514insC
XR_001742074.1:n.513_514insC
XR_001742075.1:n.513_514insC
XR_001742076.1:n.513_514insC
XR_001742077.1:n.513_514insC
NM_001364440.2:c.410_411insC NP_001351369.1:p.Val138CysfsTer3
NM_001364441.2:c.410_411insC NP_001351370.1:p.Val138CysfsTer3
NM_001364442.2:c.410_411insC NP_001351371.1:p.Val138CysfsTer3
NM_002454.3:c.410_411insC MANE Select NP_002445.2:p.Val138CysfsTer3
NM_024010.4:c.410_411insC NP_076915.3:p.Val138CysfsTer3
NR_134480.2:n.489_490insC
NR_134481.2:n.503_504insC
NR_134482.2:n.349_350insC
NR_157168.2:n.463_464insC
NR_157169.2:n.323_324insC
NR_157170.2:n.349_350insC
NR_157171.2:n.323_324insC
NR_157172.2:n.349_350insC
NR_157173.2:n.477_478insC
NR_157174.2:n.349_350insC
NR_157175.2:n.503_504insC
NR_157176.2:n.503_504insC
NR_157177.2:n.498_499insC
NR_157178.2:n.503_504insC