Canonical Allele Identifier: CA2695198951
Community Standard Title: NM_005591.4(MRE11):c.1798del (p.Glu600ArgfsTer22)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94445880del , CM000673.2:g.94445880del GRCh38
NC_000011.9:g.94179046del , CM000673.1:g.94179046del GRCh37
NC_000011.8:g.93818694del NCBI36
NG_007261.1:g.52996del , LRG_85:g.52996del

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.1798del MANE Select NP_005582.1:p.Glu600ArgfsTer22
ENST00000323929.8:c.1798del MANE Select ENSP00000325863.4:p.Glu600ArgfsTer22
NM_001330347.1:c.1795del NP_001317276.1:p.Glu599ArgfsTer22
NM_001330347.2:c.1795del NP_001317276.1:p.Glu599ArgfsTer22
NM_005590.3:c.1783+1340del NP_005581.2:n.1783+1340del
NM_005590.4:c.1783+1340del NP_005581.2:n.1783+1340del
NM_005591.3:c.1798del , LRG_85t1:c.1798del NP_005582.1:p.Glu600ArgfsTer22
ENST00000323929.7:c.1798del ENSP00000325863.3:p.Glu600ArgfsTer22
ENST00000323977.7:c.1783+1340del ENSP00000326094.3:n.1783+1340del
ENST00000393241.8:c.1795del ENSP00000376933.4:p.Glu599ArgfsTer22
ENST00000407439.7:c.1807del ENSP00000385614.3:p.Glu603ArgfsTer22
ENST00000535120.1:n.94del
XM_005274008.2:c.1330del XP_005274065.1:p.Glu444ArgfsTer22
XM_005274008.3:c.1330del XP_005274065.1:p.Glu444ArgfsTer22
XM_006718842.2:c.1795del XP_006718905.1:p.Glu599ArgfsTer22
XM_006718842.3:c.1795del XP_006718905.1:p.Glu599ArgfsTer22
XM_011542837.1:c.1798del XP_011541139.1:p.Glu600ArgfsTer22
XM_011542837.2:c.1798del XP_011541139.1:p.Glu600ArgfsTer22
XM_017017772.1:c.1798del XP_016873261.1:p.Glu600ArgfsTer22
XR_947828.1:n.2094del
XR_947828.2:n.2094del