Canonical Allele Identifier: CA915948781
Gene: MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 819342
ClinVar RCV Id: RCV001011818
dbSNP Id: rs1591672201

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94459423del , CM000673.2:g.94459423del GRCh38
NC_000011.9:g.94192589del , CM000673.1:g.94192589del GRCh37
NC_000011.8:g.93832237del NCBI36
NG_007261.1:g.39452del , LRG_85:g.39452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323929.8:c.1485del MANE Select ENSP00000325863.4:p.Asp495GlufsTer29
ENST00000323929.7:c.1485del ENSP00000325863.3:p.Asp495GlufsTer29
ENST00000323977.7:c.1485del ENSP00000326094.3:p.Asp495GlufsTer29
ENST00000393241.8:c.1485del ENSP00000376933.4:p.Asp495GlufsTer29
ENST00000407439.7:c.1494del ENSP00000385614.3:p.Asp498GlufsTer29
NM_005590.3:c.1485del NP_005581.2:p.Asp495GlufsTer29
NM_005591.3:c.1485del , LRG_85t1:c.1485del NP_005582.1:p.Asp495GlufsTer29
XM_005274008.2:c.1017del XP_005274065.1:p.Asp339GlufsTer29
XM_006718842.2:c.1485del XP_006718905.1:p.Asp495GlufsTer29
XM_011542837.1:c.1485del XP_011541139.1:p.Asp495GlufsTer29
XR_947828.1:n.1781del
NM_001330347.1:c.1485del NP_001317276.1:p.Asp495GlufsTer29
XM_005274008.3:c.1017del XP_005274065.1:p.Asp339GlufsTer29
XM_006718842.3:c.1485del XP_006718905.1:p.Asp495GlufsTer29
XM_011542837.2:c.1485del XP_011541139.1:p.Asp495GlufsTer29
XM_017017772.1:c.1485del XP_016873261.1:p.Asp495GlufsTer29
XR_947828.2:n.1781del
NM_001330347.2:c.1485del NP_001317276.1:p.Asp495GlufsTer29
NM_005590.4:c.1485del NP_005581.2:p.Asp495GlufsTer29
NM_005591.4:c.1485del MANE Select NP_005582.1:p.Asp495GlufsTer29