Canonical Allele Identifier: CA198343
Gene: MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 187699
dbSNP Id: rs786203931

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94471680dup , CM000673.2:g.94471680dup GRCh38
NC_000011.9:g.94204846dup , CM000673.1:g.94204846dup GRCh37
NC_000011.8:g.93844494dup NCBI36
NG_007261.1:g.27195dup , LRG_85:g.27195dup

Transcript Alleles

HGVS Amino-acid change
ENST00000323929.8:c.739dup MANE Select ENSP00000325863.4:p.His247ProfsTer2
ENST00000323929.7:c.739dup ENSP00000325863.3:p.His247ProfsTer2
ENST00000323977.7:c.739dup ENSP00000326094.3:p.His247ProfsTer2
ENST00000393241.8:c.739dup ENSP00000376933.4:p.His247ProfsTer2
ENST00000407439.7:c.748dup ENSP00000385614.3:p.His250ProfsTer2
NM_005590.3:c.739dup NP_005581.2:p.His247ProfsTer2
NM_005591.3:c.739dup , LRG_85t1:c.739dup NP_005582.1:p.His247ProfsTer2
XM_005274008.2:c.271dup XP_005274065.1:p.His91ProfsTer2
XM_006718842.2:c.739dup XP_006718905.1:p.His247ProfsTer2
XM_011542837.1:c.739dup XP_011541139.1:p.His247ProfsTer2
XR_947828.1:n.1035dup
NM_001330347.1:c.739dup NP_001317276.1:p.His247ProfsTer2
XM_005274008.3:c.271dup XP_005274065.1:p.His91ProfsTer2
XM_006718842.3:c.739dup XP_006718905.1:p.His247ProfsTer2
XM_011542837.2:c.739dup XP_011541139.1:p.His247ProfsTer2
XM_017017772.1:c.739dup XP_016873261.1:p.His247ProfsTer2
XR_947828.2:n.1035dup
NM_001330347.2:c.739dup NP_001317276.1:p.His247ProfsTer2
NM_005590.4:c.739dup NP_005581.2:p.His247ProfsTer2
NM_005591.4:c.739dup MANE Select NP_005582.1:p.His247ProfsTer2