Canonical Allele Identifier: CA682077518
Gene: MRE11 HGNC NCBI
ANKRD49 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94493786C>A , CM000673.2:g.94493786C>A GRCh38
NC_000011.9:g.94226952C>A , CM000673.1:g.94226952C>A GRCh37
NC_000011.8:g.93866600C>A NCBI36
NG_007261.1:g.5089G>T , LRG_85:g.5089G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323929.8:c.-106+5G>T (MRE11) MANE Select ENSP00000325863.4:n.-106+5G>T
ENST00000323929.7:c.-106+5G>T (MRE11) ENSP00000325863.3:n.-106+5G>T
ENST00000323977.7:c.-208G>T (MRE11) ENSP00000326094.3:n.-208G>T
ENST00000393241.8:c.-171G>T (MRE11) ENSP00000376933.4:n.-171G>T
ENST00000407439.7:c.-237+5G>T (MRE11) ENSP00000385614.3:n.-237+5G>T
ENST00000536144.1:n.28G>T (MRE11)
ENST00000536754.5:c.-97+5G>T (MRE11) ENSP00000439511.1:n.-97+5G>T
ENST00000538923.1:c.-199G>T (MRE11) ENSP00000442809.1:n.-199G>T
ENST00000540013.5:c.-106+5G>T (MRE11) ENSP00000440986.1:n.-106+5G>T
ENST00000541157.5:n.59+5G>T (MRE11)
ENST00000544612.5:c.-340C>A (ANKRD49) ENSP00000440396.1:n.-340C>A
NM_005590.3:c.-208G>T (MRE11) NP_005581.2:n.-208G>T
NM_005591.3:c.-106+5G>T , LRG_85t1:c.-106+5G>T (MRE11) NP_005582.1:n.-106+5G>T
XM_006718842.2:c.-208G>T (MRE11) XP_006718905.1:n.-208G>T
XM_011542837.1:c.-105-880G>T (MRE11) XP_011541139.1:n.-105-880G>T
XR_947828.1:n.89G>T (MRE11)
NM_001330347.1:c.-106+5G>T (MRE11) NP_001317276.1:n.-106+5G>T
XM_006718842.3:c.-208G>T (MRE11) XP_006718905.1:n.-208G>T
XM_011542837.2:c.-105-880G>T (MRE11) XP_011541139.1:n.-105-880G>T
XM_017017772.1:c.-208G>T (MRE11) XP_016873261.1:n.-208G>T
XR_947828.2:n.89G>T (MRE11)
NM_001330347.2:c.-106+5G>T (MRE11) NP_001317276.1:n.-106+5G>T
NM_005590.4:c.-208G>T (MRE11) NP_005581.2:n.-208G>T
NM_005591.4:c.-106+5G>T (MRE11) MANE Select NP_005582.1:n.-106+5G>T