Canonical Allele Identifier: CA2580085053

Gene: MRE11

Linked Data

• ClinVar Variation Id: 2038927
• ClinVar RCV Id: RCV002895321

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94470483_94470484del , CM000673.2:g.94470483_94470484del	GRCh38
NC_000011.9:g.94203649_94203650del , CM000673.1:g.94203649_94203650del	GRCh37
NC_000011.8:g.93843297_93843298del	NCBI36
NG_007261.1:g.28392_28393del , LRG_85:g.28392_28393del

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1005_1006del MANE Select	ENSP00000325863.4:p.Phe335LeufsTer6
ENST00000323929.7:c.1005_1006del	ENSP00000325863.3:p.Phe335LeufsTer6
ENST00000323977.7:c.1005_1006del	ENSP00000326094.3:p.Phe335LeufsTer6
ENST00000393241.8:c.1005_1006del	ENSP00000376933.4:p.Phe335LeufsTer6
ENST00000407439.7:c.1014_1015del	ENSP00000385614.3:p.Phe338LeufsTer6
NM_005590.3:c.1005_1006del	NP_005581.2:p.Phe335LeufsTer6
NM_005591.3:c.1005_1006del , LRG_85t1:c.1005_1006del	NP_005582.1:p.Phe335LeufsTer6
XM_005274008.2:c.537_538del	XP_005274065.1:p.Phe179LeufsTer6
XM_006718842.2:c.1005_1006del	XP_006718905.1:p.Phe335LeufsTer6
XM_011542837.1:c.1005_1006del	XP_011541139.1:p.Phe335LeufsTer6
XR_947828.1:n.1301_1302del
NM_001330347.1:c.1005_1006del	NP_001317276.1:p.Phe335LeufsTer6
XM_005274008.3:c.537_538del	XP_005274065.1:p.Phe179LeufsTer6
XM_006718842.3:c.1005_1006del	XP_006718905.1:p.Phe335LeufsTer6
XM_011542837.2:c.1005_1006del	XP_011541139.1:p.Phe335LeufsTer6
XM_017017772.1:c.1005_1006del	XP_016873261.1:p.Phe335LeufsTer6
XR_947828.2:n.1301_1302del
NM_001330347.2:c.1005_1006del	NP_001317276.1:p.Phe335LeufsTer6
NM_005590.4:c.1005_1006del	NP_005581.2:p.Phe335LeufsTer6
NM_005591.4:c.1005_1006del MANE Select	NP_005582.1:p.Phe335LeufsTer6