Canonical Allele Identifier: CA1992468978
Community Standard Title: NM_005591.4(MRE11):c.1100_1131del (p.Val367GlyfsTer5)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94464207_94464238del , CM000673.2:g.94464207_94464238del GRCh38
NC_000011.9:g.94197373_94197404del , CM000673.1:g.94197373_94197404del GRCh37
NC_000011.8:g.93837021_93837052del NCBI36
NG_007261.1:g.34637_34668del , LRG_85:g.34637_34668del

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.1100_1131del MANE Select NP_005582.1:p.Val367GlyfsTer5
ENST00000323929.8:c.1100_1131del MANE Select ENSP00000325863.4:p.Val367GlyfsTer5
NM_001330347.1:c.1100_1131del NP_001317276.1:p.Val367GlyfsTer5
NM_001330347.2:c.1100_1131del NP_001317276.1:p.Val367GlyfsTer5
NM_005590.3:c.1100_1131del NP_005581.2:p.Val367GlyfsTer5
NM_005590.4:c.1100_1131del NP_005581.2:p.Val367GlyfsTer5
NM_005591.3:c.1100_1131del , LRG_85t1:c.1100_1131del NP_005582.1:p.Val367GlyfsTer5
ENST00000323929.7:c.1100_1131del ENSP00000325863.3:p.Val367GlyfsTer5
ENST00000323977.7:c.1100_1131del ENSP00000326094.3:p.Val367GlyfsTer5
ENST00000393241.8:c.1100_1131del ENSP00000376933.4:p.Val367GlyfsTer5
ENST00000407439.7:c.1109_1140del ENSP00000385614.3:p.Val370GlyfsTer5
XM_005274008.2:c.632_663del XP_005274065.1:p.Val211GlyfsTer5
XM_005274008.3:c.632_663del XP_005274065.1:p.Val211GlyfsTer5
XM_006718842.2:c.1100_1131del XP_006718905.1:p.Val367GlyfsTer5
XM_006718842.3:c.1100_1131del XP_006718905.1:p.Val367GlyfsTer5
XM_011542837.1:c.1100_1131del XP_011541139.1:p.Val367GlyfsTer5
XM_011542837.2:c.1100_1131del XP_011541139.1:p.Val367GlyfsTer5
XM_017017772.1:c.1100_1131del XP_016873261.1:p.Val367GlyfsTer5
XR_947828.1:n.1396_1427del
XR_947828.2:n.1396_1427del