Canonical Allele Identifier: CA299298
Gene: MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 182554
ClinVar RCV Id: RCV000160577
dbSNP Id: rs730881752

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94476320_94476321del , CM000673.2:g.94476320_94476321del GRCh38
NC_000011.9:g.94209486_94209487del , CM000673.1:g.94209486_94209487del GRCh37
NC_000011.8:g.93849134_93849135del NCBI36
NG_007261.1:g.22554_22555del , LRG_85:g.22554_22555del

Transcript Alleles

HGVS Amino-acid change
ENST00000323929.8:c.627_628del MANE Select ENSP00000325863.4:p.Trp210ValfsTer2
ENST00000323929.7:c.627_628del ENSP00000325863.3:p.Trp210ValfsTer2
ENST00000323977.7:c.627_628del ENSP00000326094.3:p.Trp210ValfsTer2
ENST00000393241.8:c.627_628del ENSP00000376933.4:p.Trp210ValfsTer2
ENST00000407439.7:c.636_637del ENSP00000385614.3:p.Trp213ValfsTer2
ENST00000540013.5:c.627_628del ENSP00000440986.1:p.Trp210ValfsTer2
NM_005590.3:c.627_628del NP_005581.2:p.Trp210ValfsTer2
NM_005591.3:c.627_628del , LRG_85t1:c.627_628del NP_005582.1:p.Trp210ValfsTer2
XM_005274008.2:c.159_160del XP_005274065.1:p.Trp54ValfsTer2
XM_006718842.2:c.627_628del XP_006718905.1:p.Trp210ValfsTer2
XM_011542837.1:c.627_628del XP_011541139.1:p.Trp210ValfsTer2
XR_947828.1:n.923_924del
NM_001330347.1:c.627_628del NP_001317276.1:p.Trp210ValfsTer2
XM_005274008.3:c.159_160del XP_005274065.1:p.Trp54ValfsTer2
XM_006718842.3:c.627_628del XP_006718905.1:p.Trp210ValfsTer2
XM_011542837.2:c.627_628del XP_011541139.1:p.Trp210ValfsTer2
XM_017017772.1:c.627_628del XP_016873261.1:p.Trp210ValfsTer2
XR_947828.2:n.923_924del
NM_001330347.2:c.627_628del NP_001317276.1:p.Trp210ValfsTer2
NM_005590.4:c.627_628del NP_005581.2:p.Trp210ValfsTer2
NM_005591.4:c.627_628del MANE Select NP_005582.1:p.Trp210ValfsTer2