Canonical Allele Identifier: CA2695198957
Community Standard Title: NM_005591.4(MRE11):c.701del (p.Leu234TrpfsTer18)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94471722del , CM000673.2:g.94471722del GRCh38
NC_000011.9:g.94204888del , CM000673.1:g.94204888del GRCh37
NC_000011.8:g.93844536del NCBI36
NG_007261.1:g.27157del , LRG_85:g.27157del

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.701del MANE Select NP_005582.1:p.Leu234TrpfsTer18
ENST00000323929.8:c.701del MANE Select ENSP00000325863.4:p.Leu234TrpfsTer18
NM_001330347.1:c.701del NP_001317276.1:p.Leu234TrpfsTer18
NM_001330347.2:c.701del NP_001317276.1:p.Leu234TrpfsTer18
NM_005590.3:c.701del NP_005581.2:p.Leu234TrpfsTer18
NM_005590.4:c.701del NP_005581.2:p.Leu234TrpfsTer18
NM_005591.3:c.701del , LRG_85t1:c.701del NP_005582.1:p.Leu234TrpfsTer18
ENST00000323929.7:c.701del ENSP00000325863.3:p.Leu234TrpfsTer18
ENST00000323977.7:c.701del ENSP00000326094.3:p.Leu234TrpfsTer18
ENST00000393241.8:c.701del ENSP00000376933.4:p.Leu234TrpfsTer18
ENST00000407439.7:c.710del ENSP00000385614.3:p.Leu237TrpfsTer18
XM_005274008.2:c.233del XP_005274065.1:p.Leu78TrpfsTer18
XM_005274008.3:c.233del XP_005274065.1:p.Leu78TrpfsTer18
XM_006718842.2:c.701del XP_006718905.1:p.Leu234TrpfsTer18
XM_006718842.3:c.701del XP_006718905.1:p.Leu234TrpfsTer18
XM_011542837.1:c.701del XP_011541139.1:p.Leu234TrpfsTer18
XM_011542837.2:c.701del XP_011541139.1:p.Leu234TrpfsTer18
XM_017017772.1:c.701del XP_016873261.1:p.Leu234TrpfsTer18
XR_947828.1:n.997del
XR_947828.2:n.997del