Canonical Allele Identifier: CA337134
Gene: MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 216094
ClinVar RCV Id: RCV000197350 RCV001067349
dbSNP Id: rs863224508
MyVariant Identifiers: chr11:g.94197361del (hg19) chr11:g.94464195del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94464197del , CM000673.2:g.94464197del GRCh38
NC_000011.9:g.94197363del , CM000673.1:g.94197363del GRCh37
NC_000011.8:g.93837011del NCBI36
NG_007261.1:g.34680del , LRG_85:g.34680del

Transcript Alleles

HGVS Amino-acid change
ENST00000323929.8:c.1143del MANE Select ENSP00000325863.4:p.Phe381LeufsTer9
ENST00000323929.7:c.1143del ENSP00000325863.3:p.Phe381LeufsTer9
ENST00000323977.7:c.1143del ENSP00000326094.3:p.Phe381LeufsTer9
ENST00000393241.8:c.1143del ENSP00000376933.4:p.Phe381LeufsTer9
ENST00000407439.7:c.1152del ENSP00000385614.3:p.Phe384LeufsTer9
NM_005590.3:c.1143del NP_005581.2:p.Phe381LeufsTer9
NM_005591.3:c.1143del , LRG_85t1:c.1143del NP_005582.1:p.Phe381LeufsTer9
XM_005274008.2:c.675del XP_005274065.1:p.Phe225LeufsTer9
XM_006718842.2:c.1143del XP_006718905.1:p.Phe381LeufsTer9
XM_011542837.1:c.1143del XP_011541139.1:p.Phe381LeufsTer9
XR_947828.1:n.1439del
NM_001330347.1:c.1143del NP_001317276.1:p.Phe381LeufsTer9
XM_005274008.3:c.675del XP_005274065.1:p.Phe225LeufsTer9
XM_006718842.3:c.1143del XP_006718905.1:p.Phe381LeufsTer9
XM_011542837.2:c.1143del XP_011541139.1:p.Phe381LeufsTer9
XM_017017772.1:c.1143del XP_016873261.1:p.Phe381LeufsTer9
XR_947828.2:n.1439del
NM_001330347.2:c.1143del NP_001317276.1:p.Phe381LeufsTer9
NM_005590.4:c.1143del NP_005581.2:p.Phe381LeufsTer9
NM_005591.4:c.1143del MANE Select NP_005582.1:p.Phe381LeufsTer9
Search 100 bp 5'
Search 100 bp 3'