Canonical Allele Identifier: CA197475
Gene: MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 187370
ClinVar RCV Id: RCV000167093
dbSNP Id: rs786203682

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94459572del , CM000673.2:g.94459572del GRCh38
NC_000011.9:g.94192738del , CM000673.1:g.94192738del GRCh37
NC_000011.8:g.93832386del NCBI36
NG_007261.1:g.39303del , LRG_85:g.39303del

Transcript Alleles

HGVS Amino-acid change
ENST00000323929.8:c.1336del MANE Select ENSP00000325863.4:p.Leu446SerfsTer4
ENST00000323929.7:c.1336del ENSP00000325863.3:p.Leu446SerfsTer4
ENST00000323977.7:c.1336del ENSP00000326094.3:p.Leu446SerfsTer4
ENST00000393241.8:c.1336del ENSP00000376933.4:p.Leu446SerfsTer4
ENST00000407439.7:c.1345del ENSP00000385614.3:p.Leu449SerfsTer4
NM_005590.3:c.1336del NP_005581.2:p.Leu446SerfsTer4
NM_005591.3:c.1336del , LRG_85t1:c.1336del NP_005582.1:p.Leu446SerfsTer4
XM_005274008.2:c.868del XP_005274065.1:p.Leu290SerfsTer4
XM_006718842.2:c.1336del XP_006718905.1:p.Leu446SerfsTer4
XM_011542837.1:c.1336del XP_011541139.1:p.Leu446SerfsTer4
XR_947828.1:n.1632del
NM_001330347.1:c.1336del NP_001317276.1:p.Leu446SerfsTer4
XM_005274008.3:c.868del XP_005274065.1:p.Leu290SerfsTer4
XM_006718842.3:c.1336del XP_006718905.1:p.Leu446SerfsTer4
XM_011542837.2:c.1336del XP_011541139.1:p.Leu446SerfsTer4
XM_017017772.1:c.1336del XP_016873261.1:p.Leu446SerfsTer4
XR_947828.2:n.1632del
NM_001330347.2:c.1336del NP_001317276.1:p.Leu446SerfsTer4
NM_005590.4:c.1336del NP_005581.2:p.Leu446SerfsTer4
NM_005591.4:c.1336del MANE Select NP_005582.1:p.Leu446SerfsTer4