Canonical Allele Identifier: CA658658094

Gene: MRE11

Linked Data

• ClinVar Variation Id: 483626
• ClinVar RCV Id: RCV000568026
• dbSNP Id: rs1555004775
• gnomAD v3: 11-94445828-TTCTAGA-T
• gnomAD v4: 11-94445828-TTCTAGA-T
• MyVariant Identifiers: chr11:g.94178995_94179000del (hg19) ; chr11:g.94445829_94445834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94445830_94445835del , CM000673.2:g.94445830_94445835del	GRCh38
NC_000011.9:g.94178996_94179001del , CM000673.1:g.94178996_94179001del	GRCh37
NC_000011.8:g.93818644_93818649del	NCBI36
NG_007261.1:g.53041_53046del , LRG_85:g.53041_53046del

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1843_1848del MANE Select	ENSP00000325863.4:p.Ser615_Arg616del
ENST00000323929.7:c.1843_1848del	ENSP00000325863.3:p.Ser615_Arg616del
ENST00000323977.7:c.1783+1385_1783+1390del	ENSP00000326094.3:n.1783+1385_1783+1390de...
ENST00000393241.8:c.1840_1845del	ENSP00000376933.4:p.Ser614_Arg615del
ENST00000407439.7:c.1852_1857del	ENSP00000385614.3:p.Ser618_Arg619del
ENST00000535120.1:n.139_144del
NM_005590.3:c.1783+1385_1783+1390del	NP_005581.2:n.1783+1385_1783+1390del
NM_005591.3:c.1843_1848del , LRG_85t1:c.1843_1848del	NP_005582.1:p.Ser615_Arg616del
XM_005274008.2:c.1375_1380del	XP_005274065.1:p.Ser459_Arg460del
XM_006718842.2:c.1840_1845del	XP_006718905.1:p.Ser614_Arg615del
XM_011542837.1:c.1843_1848del	XP_011541139.1:p.Ser615_Arg616del
XR_947828.1:n.2139_2144del
NM_001330347.1:c.1840_1845del	NP_001317276.1:p.Ser614_Arg615del
XM_005274008.3:c.1375_1380del	XP_005274065.1:p.Ser459_Arg460del
XM_006718842.3:c.1840_1845del	XP_006718905.1:p.Ser614_Arg615del
XM_011542837.2:c.1843_1848del	XP_011541139.1:p.Ser615_Arg616del
XM_017017772.1:c.1843_1848del	XP_016873261.1:p.Ser615_Arg616del
XR_947828.2:n.2139_2144del
NM_001330347.2:c.1840_1845del	NP_001317276.1:p.Ser614_Arg615del
NM_005590.4:c.1783+1385_1783+1390del	NP_005581.2:n.1783+1385_1783+1390del
NM_005591.4:c.1843_1848del MANE Select	NP_005582.1:p.Ser615_Arg616del