Canonical Allele Identifier: CA2739270775
Community Standard Title: NM_005591.4(MRE11):c.1456_1462dup (p.Arg488GlnfsTer6)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94459446_94459452dup , CM000673.2:g.94459446_94459452dup GRCh38
NC_000011.9:g.94192612_94192618dup , CM000673.1:g.94192612_94192618dup GRCh37
NC_000011.8:g.93832260_93832266dup NCBI36
NG_007261.1:g.39423_39429dup , LRG_85:g.39423_39429dup

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.1456_1462dup MANE Select NP_005582.1:p.Arg488GlnfsTer6
ENST00000323929.8:c.1456_1462dup MANE Select ENSP00000325863.4:p.Arg488GlnfsTer6
NM_001330347.1:c.1456_1462dup NP_001317276.1:p.Arg488GlnfsTer6
NM_001330347.2:c.1456_1462dup NP_001317276.1:p.Arg488GlnfsTer6
NM_005590.3:c.1456_1462dup NP_005581.2:p.Arg488GlnfsTer6
NM_005590.4:c.1456_1462dup NP_005581.2:p.Arg488GlnfsTer6
NM_005591.3:c.1456_1462dup , LRG_85t1:c.1456_1462dup NP_005582.1:p.Arg488GlnfsTer6
ENST00000323929.7:c.1456_1462dup ENSP00000325863.3:p.Arg488GlnfsTer6
ENST00000323977.7:c.1456_1462dup ENSP00000326094.3:p.Arg488GlnfsTer6
ENST00000393241.8:c.1456_1462dup ENSP00000376933.4:p.Arg488GlnfsTer6
ENST00000407439.7:c.1465_1471dup ENSP00000385614.3:p.Arg491GlnfsTer6
XM_005274008.2:c.988_994dup XP_005274065.1:p.Arg332GlnfsTer6
XM_005274008.3:c.988_994dup XP_005274065.1:p.Arg332GlnfsTer6
XM_006718842.2:c.1456_1462dup XP_006718905.1:p.Arg488GlnfsTer6
XM_006718842.3:c.1456_1462dup XP_006718905.1:p.Arg488GlnfsTer6
XM_011542837.1:c.1456_1462dup XP_011541139.1:p.Arg488GlnfsTer6
XM_011542837.2:c.1456_1462dup XP_011541139.1:p.Arg488GlnfsTer6
XM_017017772.1:c.1456_1462dup XP_016873261.1:p.Arg488GlnfsTer6
XR_947828.1:n.1752_1758dup
XR_947828.2:n.1752_1758dup