Canonical Allele Identifier: CA6235256
Community Standard Title: NM_005591.4(MRE11):c.939del (p.Leu314Ter)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94470550del , CM000673.2:g.94470550del GRCh38
NC_000011.9:g.94203716del , CM000673.1:g.94203716del GRCh37
NC_000011.8:g.93843364del NCBI36
NG_007261.1:g.28326del , LRG_85:g.28326del

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.939del MANE Select NP_005582.1:p.Leu314Ter
ENST00000323929.8:c.939del MANE Select ENSP00000325863.4:p.Leu314Ter
NM_001330347.1:c.939del NP_001317276.1:p.Leu314Ter
NM_001330347.2:c.939del NP_001317276.1:p.Leu314Ter
NM_005590.3:c.939del NP_005581.2:p.Leu314Ter
NM_005590.4:c.939del NP_005581.2:p.Leu314Ter
NM_005591.3:c.939del , LRG_85t1:c.939del NP_005582.1:p.Leu314Ter
ENST00000323929.7:c.939del ENSP00000325863.3:p.Leu314Ter
ENST00000323977.7:c.939del ENSP00000326094.3:p.Leu314Ter
ENST00000393241.8:c.939del ENSP00000376933.4:p.Leu314Ter
ENST00000407439.7:c.948del ENSP00000385614.3:p.Leu317Ter
XM_005274008.2:c.471del XP_005274065.1:p.Leu158Ter
XM_005274008.3:c.471del XP_005274065.1:p.Leu158Ter
XM_006718842.2:c.939del XP_006718905.1:p.Leu314Ter
XM_006718842.3:c.939del XP_006718905.1:p.Leu314Ter
XM_011542837.1:c.939del XP_011541139.1:p.Leu314Ter
XM_011542837.2:c.939del XP_011541139.1:p.Leu314Ter
XM_017017772.1:c.939del XP_016873261.1:p.Leu314Ter
XR_947828.1:n.1235del
XR_947828.2:n.1235del