Canonical Allele Identifier: CA915948785

Gene: MRE11

Linked Data

• ClinVar Variation Id: 827059
• ClinVar RCV Id: RCV001026452
• dbSNP Id: rs1591695249
• gnomAD v4: 11-94471671-T-TACA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94471672_94471674dup , CM000673.2:g.94471672_94471674dup	GRCh38
NC_000011.9:g.94204838_94204840dup , CM000673.1:g.94204838_94204840dup	GRCh37
NC_000011.8:g.93844486_93844488dup	NCBI36
NG_007261.1:g.27201_27203dup , LRG_85:g.27201_27203dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.745_747dup MANE Select	ENSP00000325863.4:p.Cys249_Lys250insCys
ENST00000323929.7:c.745_747dup	ENSP00000325863.3:p.Cys249_Lys250insCys
ENST00000323977.7:c.745_747dup	ENSP00000326094.3:p.Cys249_Lys250insCys
ENST00000393241.8:c.745_747dup	ENSP00000376933.4:p.Cys249_Lys250insCys
ENST00000407439.7:c.754_756dup	ENSP00000385614.3:p.Cys252_Lys253insCys
NM_005590.3:c.745_747dup	NP_005581.2:p.Cys249_Lys250insCys
NM_005591.3:c.745_747dup , LRG_85t1:c.745_747dup	NP_005582.1:p.Cys249_Lys250insCys
XM_005274008.2:c.277_279dup	XP_005274065.1:p.Cys93_Lys94insCys
XM_006718842.2:c.745_747dup	XP_006718905.1:p.Cys249_Lys250insCys
XM_011542837.1:c.745_747dup	XP_011541139.1:p.Cys249_Lys250insCys
XR_947828.1:n.1041_1043dup
NM_001330347.1:c.745_747dup	NP_001317276.1:p.Cys249_Lys250insCys
XM_005274008.3:c.277_279dup	XP_005274065.1:p.Cys93_Lys94insCys
XM_006718842.3:c.745_747dup	XP_006718905.1:p.Cys249_Lys250insCys
XM_011542837.2:c.745_747dup	XP_011541139.1:p.Cys249_Lys250insCys
XM_017017772.1:c.745_747dup	XP_016873261.1:p.Cys249_Lys250insCys
XR_947828.2:n.1041_1043dup
NM_001330347.2:c.745_747dup	NP_001317276.1:p.Cys249_Lys250insCys
NM_005590.4:c.745_747dup	NP_005581.2:p.Cys249_Lys250insCys
NM_005591.4:c.745_747dup MANE Select	NP_005582.1:p.Cys249_Lys250insCys