Canonical Allele Identifier: CA189291

Gene: MRE11

Linked Data

• ClinVar Variation Id: 184556
• ClinVar RCV Id: RCV000163829 ; RCV000761797 ; RCV001052500 ; RCV003444061
• dbSNP Id: rs774440500
• ExAC: 11:94197281 G / GT
• gnomAD v2: 11-94197281-G-GT
• gnomAD v3: 11-94464115-G-GT
• gnomAD v4: 11-94464115-G-GT
• MyVariant Identifiers: chr11:g.94197282dupT (hg19) ; chr11:g.94197281_94197282insT (hg19) ; chr11:g.94464116dupT (hg38) ; chr11:g.94464115_94464116insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94464121dup , CM000673.2:g.94464121dup	GRCh38
NC_000011.9:g.94197287dup , CM000673.1:g.94197287dup	GRCh37
NC_000011.8:g.93836935dup	NCBI36
NG_007261.1:g.34759dup , LRG_85:g.34759dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1222dup MANE Select	ENSP00000325863.4:p.Thr408AsnfsTer?
ENST00000323929.7:c.1222dup	ENSP00000325863.3:p.Thr408AsnfsTer?
ENST00000323977.7:c.1222dup	ENSP00000326094.3:p.Thr408AsnfsTer?
ENST00000393241.8:c.1222dup	ENSP00000376933.4:p.Thr408AsnfsTer?
ENST00000407439.7:c.1231dup	ENSP00000385614.3:p.Thr411AsnfsTer?
NM_005590.3:c.1222dup	NP_005581.2:p.Thr408AsnfsTer?
NM_005591.3:c.1222dup , LRG_85t1:c.1222dup	NP_005582.1:p.Thr408AsnfsTer?
XM_005274008.2:c.754dup	XP_005274065.1:p.Thr252AsnfsTer?
XM_006718842.2:c.1222dup	XP_006718905.1:p.Thr408AsnfsTer?
XM_011542837.1:c.1222dup	XP_011541139.1:p.Thr408AsnfsTer?
XR_947828.1:n.1518dup
NM_001330347.1:c.1222dup	NP_001317276.1:p.Thr408AsnfsTer?
XM_005274008.3:c.754dup	XP_005274065.1:p.Thr252AsnfsTer?
XM_006718842.3:c.1222dup	XP_006718905.1:p.Thr408AsnfsTer?
XM_011542837.2:c.1222dup	XP_011541139.1:p.Thr408AsnfsTer?
XM_017017772.1:c.1222dup	XP_016873261.1:p.Thr408AsnfsTer?
XR_947828.2:n.1518dup
NM_001330347.2:c.1222dup	NP_001317276.1:p.Thr408AsnfsTer?
NM_005590.4:c.1222dup	NP_005581.2:p.Thr408AsnfsTer?
NM_005591.4:c.1222dup MANE Select	NP_005582.1:p.Thr408AsnfsTer?