Canonical Allele Identifier: CA2580073145
Gene: MTRR HGNC NCBI

Linked Data

ClinVar Variation Id: 2005165
ClinVar RCV Id: RCV002820821

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7877938del , CM000667.2:g.7877938del GRCh38
NC_000005.9:g.7878051del , CM000667.1:g.7878051del GRCh37
NC_000005.8:g.7931051del NCBI36
NG_008856.1:g.13835del

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.402-6del MANE Select ENSP00000402510.2:n.402-6del
ENST00000264668.6:c.483-6del ENSP00000264668.2:n.483-6del
ENST00000440940.6:c.402-6del ENSP00000402510.2:n.402-6del
ENST00000502509.5:n.617-6del
ENST00000502550.5:c.402-6del ENSP00000424599.1:n.402-6del
ENST00000503550.5:c.*337-6del ENSP00000424644.1:n.*337-6del
ENST00000508047.5:c.455-6del
ENST00000508890.1:n.215-6del
ENST00000510279.5:c.*71-6del ENSP00000427200.1:n.*71-6del
ENST00000510525.5:c.427-6del
ENST00000511461.5:c.315-6del
ENST00000513439.5:c.*109-6del ENSP00000426710.1:n.*109-6del
ENST00000514220.5:c.187-6del
ENST00000514369.5:c.*71-11del ENSP00000426132.1:n.*71-11del
NM_002454.2:c.402-6del NP_002445.2:n.402-6del
NM_024010.2:c.483-6del NP_076915.2:n.483-6del
XM_006714474.2:c.483-6del XP_006714537.1:n.483-6del
XM_011514043.1:c.483-6del XP_011512345.1:n.483-6del
XM_011514044.1:c.402-6del XP_011512346.1:n.402-6del
XM_011514045.1:c.483-6del XP_011512347.1:n.483-6del
XR_241702.1:n.505-6del
XR_241703.1:n.498-6del
XR_925614.1:n.505-6del
XR_925615.1:n.505-6del
NM_001364440.1:c.402-6del NP_001351369.1:n.402-6del
NM_001364441.1:c.402-6del NP_001351370.1:n.402-6del
NM_001364442.1:c.402-6del NP_001351371.1:n.402-6del
NM_024010.3:c.402-6del NP_076915.3:n.402-6del
NR_134480.1:n.525-6del
NR_134481.1:n.539-6del
NR_134482.1:n.385-6del
NR_157168.1:n.455-6del
NR_157169.1:n.315-6del
NR_157170.1:n.341-6del
NR_157171.1:n.315-6del
NR_157172.1:n.341-6del
NR_157173.1:n.469-6del
NR_157174.1:n.341-6del
NR_157175.1:n.495-6del
NR_157176.1:n.495-6del
NR_157177.1:n.495-11del
NR_157178.1:n.495-6del
XM_024446063.1:c.447-6del XP_024301831.1:n.447-6del
XM_024446064.1:c.402-6del XP_024301832.1:n.402-6del
XR_001742071.1:n.505-6del
XR_001742072.1:n.505-6del
XR_001742074.1:n.505-6del
XR_001742075.1:n.505-6del
XR_001742076.1:n.505-6del
XR_001742077.1:n.505-6del
NM_001364440.2:c.402-6del NP_001351369.1:n.402-6del
NM_001364441.2:c.402-6del NP_001351370.1:n.402-6del
NM_001364442.2:c.402-6del NP_001351371.1:n.402-6del
NM_002454.3:c.402-6del MANE Select NP_002445.2:n.402-6del
NM_024010.4:c.402-6del NP_076915.3:n.402-6del
NR_134480.2:n.481-6del
NR_134481.2:n.495-6del
NR_134482.2:n.341-6del
NR_157168.2:n.455-6del
NR_157169.2:n.315-6del
NR_157170.2:n.341-6del
NR_157171.2:n.315-6del
NR_157172.2:n.341-6del
NR_157173.2:n.469-6del
NR_157174.2:n.341-6del
NR_157175.2:n.495-6del
NR_157176.2:n.495-6del
NR_157177.2:n.495-11del
NR_157178.2:n.495-6del