Canonical Allele Identifier: CA2558540281
Gene: MTRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7877971_7877976del , CM000667.2:g.7877971_7877976del GRCh38
NC_000005.9:g.7878084_7878089del , CM000667.1:g.7878084_7878089del GRCh37
NC_000005.8:g.7931084_7931089del NCBI36
NG_008856.1:g.13868_13873del

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.429_434del MANE Select ENSP00000402510.2:p.Ala144_Gly145del
ENST00000264668.6:c.510_515del ENSP00000264668.2:p.Ala171_Gly172del
ENST00000440940.6:c.429_434del ENSP00000402510.2:p.Ala144_Gly145del
ENST00000502509.5:n.644_649del
ENST00000502550.5:c.429_434del ENSP00000424599.1:p.Ala144_Gly145del
ENST00000508047.5:c.482_487del
ENST00000508890.1:n.242_247del
ENST00000510279.5:c.*98_*103del ENSP00000427200.1:n.*98_*103del
ENST00000510525.5:c.454_459del
ENST00000511461.5:c.342_347del
ENST00000513439.5:c.*136_*141del ENSP00000426710.1:n.*136_*141del
ENST00000514220.5:c.214_219del
ENST00000514369.5:c.*93_*98del ENSP00000426132.1:n.*93_*98del
NM_002454.2:c.429_434del NP_002445.2:p.Ala144_Gly145del
NM_024010.2:c.510_515del NP_076915.2:p.Ala171_Gly172del
XM_006714474.2:c.510_515del XP_006714537.1:p.Ala171_Gly172del
XM_011514043.1:c.510_515del XP_011512345.1:p.Ala171_Gly172del
XM_011514044.1:c.429_434del XP_011512346.1:p.Ala144_Gly145del
XM_011514045.1:c.510_515del XP_011512347.1:p.Ala171_Gly172del
XR_241702.1:n.532_537del
XR_241703.1:n.525_530del
XR_925614.1:n.532_537del
XR_925615.1:n.532_537del
NM_001364440.1:c.429_434del NP_001351369.1:p.Ala144_Gly145del
NM_001364441.1:c.429_434del NP_001351370.1:p.Ala144_Gly145del
NM_001364442.1:c.429_434del NP_001351371.1:p.Ala144_Gly145del
NM_024010.3:c.429_434del NP_076915.3:p.Ala144_Gly145del
NR_134480.1:n.552_557del
NR_134481.1:n.566_571del
NR_134482.1:n.412_417del
NR_157168.1:n.482_487del
NR_157169.1:n.342_347del
NR_157170.1:n.368_373del
NR_157171.1:n.342_347del
NR_157172.1:n.368_373del
NR_157173.1:n.496_501del
NR_157174.1:n.368_373del
NR_157175.1:n.522_527del
NR_157176.1:n.522_527del
NR_157177.1:n.517_522del
NR_157178.1:n.522_527del
XM_024446063.1:c.474_479del XP_024301831.1:p.Ala159_Gly160del
XM_024446064.1:c.429_434del XP_024301832.1:p.Ala144_Gly145del
XR_001742071.1:n.532_537del
XR_001742072.1:n.532_537del
XR_001742074.1:n.532_537del
XR_001742075.1:n.532_537del
XR_001742076.1:n.532_537del
XR_001742077.1:n.532_537del
NM_001364440.2:c.429_434del NP_001351369.1:p.Ala144_Gly145del
NM_001364441.2:c.429_434del NP_001351370.1:p.Ala144_Gly145del
NM_001364442.2:c.429_434del NP_001351371.1:p.Ala144_Gly145del
NM_002454.3:c.429_434del MANE Select NP_002445.2:p.Ala144_Gly145del
NM_024010.4:c.429_434del NP_076915.3:p.Ala144_Gly145del
NR_134480.2:n.508_513del
NR_134481.2:n.522_527del
NR_134482.2:n.368_373del
NR_157168.2:n.482_487del
NR_157169.2:n.342_347del
NR_157170.2:n.368_373del
NR_157171.2:n.342_347del
NR_157172.2:n.368_373del
NR_157173.2:n.496_501del
NR_157174.2:n.368_373del
NR_157175.2:n.522_527del
NR_157176.2:n.522_527del
NR_157177.2:n.517_522del
NR_157178.2:n.522_527del