Canonical Allele Identifier: CA2831038851
Community Standard Title: NM_005591.4(MRE11):c.923del (p.Phe308SerfsTer7)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94470569del , CM000673.2:g.94470569del GRCh38
NC_000011.9:g.94203735del , CM000673.1:g.94203735del GRCh37
NC_000011.8:g.93843383del NCBI36
NG_007261.1:g.28310del , LRG_85:g.28310del

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.923del MANE Select NP_005582.1:p.Phe308SerfsTer7
ENST00000323929.8:c.923del MANE Select ENSP00000325863.4:p.Phe308SerfsTer7
NM_001330347.1:c.923del NP_001317276.1:p.Phe308SerfsTer7
NM_001330347.2:c.923del NP_001317276.1:p.Phe308SerfsTer7
NM_005590.3:c.923del NP_005581.2:p.Phe308SerfsTer7
NM_005590.4:c.923del NP_005581.2:p.Phe308SerfsTer7
NM_005591.3:c.923del , LRG_85t1:c.923del NP_005582.1:p.Phe308SerfsTer7
ENST00000323929.7:c.923del ENSP00000325863.3:p.Phe308SerfsTer7
ENST00000323977.7:c.923del ENSP00000326094.3:p.Phe308SerfsTer7
ENST00000393241.8:c.923del ENSP00000376933.4:p.Phe308SerfsTer7
ENST00000407439.7:c.932del ENSP00000385614.3:p.Phe311SerfsTer7
XM_005274008.2:c.455del XP_005274065.1:p.Phe152SerfsTer7
XM_005274008.3:c.455del XP_005274065.1:p.Phe152SerfsTer7
XM_006718842.2:c.923del XP_006718905.1:p.Phe308SerfsTer7
XM_006718842.3:c.923del XP_006718905.1:p.Phe308SerfsTer7
XM_011542837.1:c.923del XP_011541139.1:p.Phe308SerfsTer7
XM_011542837.2:c.923del XP_011541139.1:p.Phe308SerfsTer7
XM_017017772.1:c.923del XP_016873261.1:p.Phe308SerfsTer7
XR_947828.1:n.1219del
XR_947828.2:n.1219del