Canonical Allele Identifier: CA2578265973
Gene: MTRR HGNC NCBI

Linked Data

gnomAD v4: 5-7891379-TC-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7891381del , CM000667.2:g.7891381del GRCh38
NC_000005.9:g.7891494del , CM000667.1:g.7891494del GRCh37
NC_000005.8:g.7944494del NCBI36
NG_008856.1:g.27278del

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.1337del MANE Select ENSP00000402510.2:p.Pro446LeufsTer?
ENST00000264668.6:c.1418del ENSP00000264668.2:p.Pro473LeufsTer?
ENST00000440940.6:c.1337del ENSP00000402510.2:p.Pro446LeufsTer?
ENST00000507202.1:n.13del
ENST00000507414.1:n.77del
ENST00000508101.5:n.577del
ENST00000510525.5:c.1273del
ENST00000511461.5:c.1250del
ENST00000512311.5:n.316del
ENST00000513439.5:c.*1044del ENSP00000426710.1:n.*1044del
NM_002454.2:c.1337del NP_002445.2:p.Pro446LeufsTer?
NM_024010.2:c.1418del NP_076915.2:p.Pro473LeufsTer?
XM_011514043.1:c.1418del XP_011512345.1:p.Pro473LeufsTer?
XM_011514044.1:c.1337del XP_011512346.1:p.Pro446LeufsTer?
XR_241702.1:n.1351del
XR_241703.1:n.1344del
XR_925614.1:n.1463del
XR_925615.1:n.1615del
NM_001364440.1:c.1337del NP_001351369.1:p.Pro446LeufsTer?
NM_001364441.1:c.1337del NP_001351370.1:p.Pro446LeufsTer?
NM_001364442.1:c.1337del NP_001351371.1:p.Pro446LeufsTer?
NM_024010.3:c.1337del NP_076915.3:p.Pro446LeufsTer?
NR_134480.1:n.1460del
NR_134481.1:n.1385del
NR_134482.1:n.1320del
NR_157168.1:n.1390del
NR_157169.1:n.1250del
NR_157170.1:n.1416del
NR_157171.1:n.1273del
NR_157172.1:n.1187del
NR_157173.1:n.1427del
NR_157174.1:n.1428del
NR_157175.1:n.1582del
NR_157176.1:n.1745del
NR_157177.1:n.1425del
NR_157178.1:n.1453del
XM_024446063.1:c.1382del XP_024301831.1:p.Pro461LeufsTer?
XM_024446064.1:c.1337del XP_024301832.1:p.Pro446LeufsTer?
XR_001742071.1:n.1615del
XR_001742072.1:n.1592del
XR_001742074.1:n.1351del
XR_001742075.1:n.1503del
XR_001742076.1:n.1580del
XR_001742077.1:n.1603del
NM_001364440.2:c.1337del NP_001351369.1:p.Pro446LeufsTer?
NM_001364441.2:c.1337del NP_001351370.1:p.Pro446LeufsTer?
NM_001364442.2:c.1337del NP_001351371.1:p.Pro446LeufsTer?
NM_002454.3:c.1337del MANE Select NP_002445.2:p.Pro446LeufsTer?
NM_024010.4:c.1337del NP_076915.3:p.Pro446LeufsTer?
NR_134480.2:n.1416del
NR_134481.2:n.1341del
NR_134482.2:n.1276del
NR_157168.2:n.1390del
NR_157169.2:n.1250del
NR_157170.2:n.1416del
NR_157171.2:n.1273del
NR_157172.2:n.1187del
NR_157173.2:n.1427del
NR_157174.2:n.1428del
NR_157175.2:n.1582del
NR_157176.2:n.1745del
NR_157177.2:n.1425del
NR_157178.2:n.1453del