Canonical Allele Identifier: CA2695198958
Community Standard Title: NM_005591.4(MRE11):c.690del (p.Glu231AsnfsTer21)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94471729del , CM000673.2:g.94471729del GRCh38
NC_000011.9:g.94204895del , CM000673.1:g.94204895del GRCh37
NC_000011.8:g.93844543del NCBI36
NG_007261.1:g.27146del , LRG_85:g.27146del

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.690del MANE Select NP_005582.1:p.Glu231AsnfsTer21
ENST00000323929.8:c.690del MANE Select ENSP00000325863.4:p.Glu231AsnfsTer21
NM_001330347.1:c.690del NP_001317276.1:p.Glu231AsnfsTer21
NM_001330347.2:c.690del NP_001317276.1:p.Glu231AsnfsTer21
NM_005590.3:c.690del NP_005581.2:p.Glu231AsnfsTer21
NM_005590.4:c.690del NP_005581.2:p.Glu231AsnfsTer21
NM_005591.3:c.690del , LRG_85t1:c.690del NP_005582.1:p.Glu231AsnfsTer21
ENST00000323929.7:c.690del ENSP00000325863.3:p.Glu231AsnfsTer21
ENST00000323977.7:c.690del ENSP00000326094.3:p.Glu231AsnfsTer21
ENST00000393241.8:c.690del ENSP00000376933.4:p.Glu231AsnfsTer21
ENST00000407439.7:c.699del ENSP00000385614.3:p.Glu234AsnfsTer21
XM_005274008.2:c.222del XP_005274065.1:p.Glu75AsnfsTer21
XM_005274008.3:c.222del XP_005274065.1:p.Glu75AsnfsTer21
XM_006718842.2:c.690del XP_006718905.1:p.Glu231AsnfsTer21
XM_006718842.3:c.690del XP_006718905.1:p.Glu231AsnfsTer21
XM_011542837.1:c.690del XP_011541139.1:p.Glu231AsnfsTer21
XM_011542837.2:c.690del XP_011541139.1:p.Glu231AsnfsTer21
XM_017017772.1:c.690del XP_016873261.1:p.Glu231AsnfsTer21
XR_947828.1:n.986del
XR_947828.2:n.986del