Canonical Allele Identifier: CA6235076
Community Standard Title: NM_005591.4(MRE11):c.1458_1461del (p.Lys486AsnfsTer?)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94459449_94459452del , CM000673.2:g.94459449_94459452del GRCh38
NC_000011.9:g.94192615_94192618del , CM000673.1:g.94192615_94192618del GRCh37
NC_000011.8:g.93832263_93832266del NCBI36
NG_007261.1:g.39425_39428del , LRG_85:g.39425_39428del

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.1458_1461del MANE Select NP_005582.1:p.Lys486AsnfsTer?
ENST00000323929.8:c.1458_1461del MANE Select ENSP00000325863.4:p.Lys486AsnfsTer?
NM_001330347.1:c.1458_1461del NP_001317276.1:p.Lys486AsnfsTer?
NM_001330347.2:c.1458_1461del NP_001317276.1:p.Lys486AsnfsTer?
NM_005590.3:c.1458_1461del NP_005581.2:p.Lys486AsnfsTer?
NM_005590.4:c.1458_1461del NP_005581.2:p.Lys486AsnfsTer?
NM_005591.3:c.1458_1461del , LRG_85t1:c.1458_1461del NP_005582.1:p.Lys486AsnfsTer?
ENST00000323929.7:c.1458_1461del ENSP00000325863.3:p.Lys486AsnfsTer?
ENST00000323977.7:c.1458_1461del ENSP00000326094.3:p.Lys486AsnfsTer?
ENST00000393241.8:c.1458_1461del ENSP00000376933.4:p.Lys486AsnfsTer?
ENST00000407439.7:c.1467_1470del ENSP00000385614.3:p.Lys489AsnfsTer?
XM_005274008.2:c.990_993del XP_005274065.1:p.Lys330AsnfsTer?
XM_005274008.3:c.990_993del XP_005274065.1:p.Lys330AsnfsTer?
XM_006718842.2:c.1458_1461del XP_006718905.1:p.Lys486AsnfsTer?
XM_006718842.3:c.1458_1461del XP_006718905.1:p.Lys486AsnfsTer?
XM_011542837.1:c.1458_1461del XP_011541139.1:p.Lys486AsnfsTer?
XM_011542837.2:c.1458_1461del XP_011541139.1:p.Lys486AsnfsTer?
XM_017017772.1:c.1458_1461del XP_016873261.1:p.Lys486AsnfsTer?
XR_947828.1:n.1754_1757del
XR_947828.2:n.1754_1757del