Canonical Allele Identifier: CA915948782

Gene: MRE11

Linked Data

• ClinVar Variation Id: 807446
• ClinVar RCV Id: RCV000995583 ; RCV001205827
• dbSNP Id: rs1591681273
• gnomAD v4: 11-94464225-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94464227dup , CM000673.2:g.94464227dup	GRCh38
NC_000011.9:g.94197393dup , CM000673.1:g.94197393dup	GRCh37
NC_000011.8:g.93837041dup	NCBI36
NG_007261.1:g.34649dup , LRG_85:g.34649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1112dup MANE Select	ENSP00000325863.4:p.Gly372ArgfsTer3
ENST00000323929.7:c.1112dup	ENSP00000325863.3:p.Gly372ArgfsTer3
ENST00000323977.7:c.1112dup	ENSP00000326094.3:p.Gly372ArgfsTer3
ENST00000393241.8:c.1112dup	ENSP00000376933.4:p.Gly372ArgfsTer3
ENST00000407439.7:c.1121dup	ENSP00000385614.3:p.Gly375ArgfsTer3
NM_005590.3:c.1112dup	NP_005581.2:p.Gly372ArgfsTer3
NM_005591.3:c.1112dup , LRG_85t1:c.1112dup	NP_005582.1:p.Gly372ArgfsTer3
XM_005274008.2:c.644dup	XP_005274065.1:p.Gly216ArgfsTer3
XM_006718842.2:c.1112dup	XP_006718905.1:p.Gly372ArgfsTer3
XM_011542837.1:c.1112dup	XP_011541139.1:p.Gly372ArgfsTer3
XR_947828.1:n.1408dup
NM_001330347.1:c.1112dup	NP_001317276.1:p.Gly372ArgfsTer3
XM_005274008.3:c.644dup	XP_005274065.1:p.Gly216ArgfsTer3
XM_006718842.3:c.1112dup	XP_006718905.1:p.Gly372ArgfsTer3
XM_011542837.2:c.1112dup	XP_011541139.1:p.Gly372ArgfsTer3
XM_017017772.1:c.1112dup	XP_016873261.1:p.Gly372ArgfsTer3
XR_947828.2:n.1408dup
NM_001330347.2:c.1112dup	NP_001317276.1:p.Gly372ArgfsTer3
NM_005590.4:c.1112dup	NP_005581.2:p.Gly372ArgfsTer3
NM_005591.4:c.1112dup MANE Select	NP_005582.1:p.Gly372ArgfsTer3