Canonical Allele Identifier: CA192198
Gene: MRE11 HGNC NCBI

Linked Data

ClinVar Variation Id: 185530
ClinVar RCV Id: RCV000164971 RCV001059474
dbSNP Id: rs786202253
gnomAD v4: 11-94478767-TTTTGAAGC-T
MyVariant Identifiers: chr11:g.94211934_94211941del (hg19) chr11:g.94478768_94478775del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94478768_94478775del , CM000673.2:g.94478768_94478775del GRCh38
NC_000011.9:g.94211934_94211941del , CM000673.1:g.94211934_94211941del GRCh37
NC_000011.8:g.93851582_93851589del NCBI36
NG_007261.1:g.20100_20107del , LRG_85:g.20100_20107del

Transcript Alleles

HGVS Amino-acid change
ENST00000323929.8:c.504_511del MANE Select ENSP00000325863.4:p.Leu169ArgfsTer16
ENST00000323929.7:c.504_511del ENSP00000325863.3:p.Leu169ArgfsTer16
ENST00000323977.7:c.504_511del ENSP00000326094.3:p.Leu169ArgfsTer16
ENST00000393241.8:c.504_511del ENSP00000376933.4:p.Leu169ArgfsTer16
ENST00000407439.7:c.513_520del ENSP00000385614.3:p.Leu172ArgfsTer16
ENST00000540013.5:c.504_511del ENSP00000440986.1:p.Leu169ArgfsTer16
ENST00000541157.5:n.580_587del
NM_005590.3:c.504_511del NP_005581.2:p.Leu169ArgfsTer16
NM_005591.3:c.504_511del , LRG_85t1:c.504_511del NP_005582.1:p.Leu169ArgfsTer16
XM_005274008.2:c.36_43del XP_005274065.1:p.Leu13ArgfsTer16
XM_006718842.2:c.504_511del XP_006718905.1:p.Leu169ArgfsTer16
XM_011542837.1:c.504_511del XP_011541139.1:p.Leu169ArgfsTer16
XR_947828.1:n.800_807del
NM_001330347.1:c.504_511del NP_001317276.1:p.Leu169ArgfsTer16
XM_005274008.3:c.36_43del XP_005274065.1:p.Leu13ArgfsTer16
XM_006718842.3:c.504_511del XP_006718905.1:p.Leu169ArgfsTer16
XM_011542837.2:c.504_511del XP_011541139.1:p.Leu169ArgfsTer16
XM_017017772.1:c.504_511del XP_016873261.1:p.Leu169ArgfsTer16
XR_947828.2:n.800_807del
NM_001330347.2:c.504_511del NP_001317276.1:p.Leu169ArgfsTer16
NM_005590.4:c.504_511del NP_005581.2:p.Leu169ArgfsTer16
NM_005591.4:c.504_511del MANE Select NP_005582.1:p.Leu169ArgfsTer16
Search 100 bp 5'
Search 100 bp 3'