Canonical Allele Identifier: CA2695198956
Gene: MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2676698
ClinVar RCV Id: RCV003461879

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94464151del , CM000673.2:g.94464151del GRCh38
NC_000011.9:g.94197317del , CM000673.1:g.94197317del GRCh37
NC_000011.8:g.93836965del NCBI36
NG_007261.1:g.34724del , LRG_85:g.34724del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323929.8:c.1187del MANE Select ENSP00000325863.4:p.Ile396ThrfsTer?
ENST00000323929.7:c.1187del ENSP00000325863.3:p.Ile396ThrfsTer?
ENST00000323977.7:c.1187del ENSP00000326094.3:p.Ile396ThrfsTer?
ENST00000393241.8:c.1187del ENSP00000376933.4:p.Ile396ThrfsTer?
ENST00000407439.7:c.1196del ENSP00000385614.3:p.Ile399ThrfsTer?
NM_005590.3:c.1187del NP_005581.2:p.Ile396ThrfsTer?
NM_005591.3:c.1187del , LRG_85t1:c.1187del NP_005582.1:p.Ile396ThrfsTer?
XM_005274008.2:c.719del XP_005274065.1:p.Ile240ThrfsTer?
XM_006718842.2:c.1187del XP_006718905.1:p.Ile396ThrfsTer?
XM_011542837.1:c.1187del XP_011541139.1:p.Ile396ThrfsTer?
XR_947828.1:n.1483del
NM_001330347.1:c.1187del NP_001317276.1:p.Ile396ThrfsTer?
XM_005274008.3:c.719del XP_005274065.1:p.Ile240ThrfsTer?
XM_006718842.3:c.1187del XP_006718905.1:p.Ile396ThrfsTer?
XM_011542837.2:c.1187del XP_011541139.1:p.Ile396ThrfsTer?
XM_017017772.1:c.1187del XP_016873261.1:p.Ile396ThrfsTer?
XR_947828.2:n.1483del
NM_001330347.2:c.1187del NP_001317276.1:p.Ile396ThrfsTer?
NM_005590.4:c.1187del NP_005581.2:p.Ile396ThrfsTer?
NM_005591.4:c.1187del MANE Select NP_005582.1:p.Ile396ThrfsTer?