Canonical Allele Identifier: CA2615589376

Gene: MRE11

Linked Data

• gnomAD v4: 11-94464119-T-TATATTTACCATAAAAATAACTAACTAACAAAAGAACTAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94464119_94464120insATATTTACCATAAAAATAACTAACTAACAAAAGAACTAGC , CM000673.2:g.94464119_94464120insATATTTACCATAAAAATAACTAACTAACAAAAGAACTAGC	GRCh38
NC_000011.9:g.94197285_94197286insATATTTACCATAAAAATAACTAACTAACAAAAGAACTAGC , CM000673.1:g.94197285_94197286insATATTTACCATAAAAATAACTAACTAACAAAAGAACTAGC	GRCh37
NC_000011.8:g.93836933_93836934insATATTTACCATAAAAATAACTAACTAACAAAAGAACTAGC	NCBI36
NG_007261.1:g.34755_34756insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT , LRG_85:g.34755_34756insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT MANE Select	ENSP00000325863.4:p.Lys407AlafsTer7
ENST00000323929.7:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	ENSP00000325863.3:p.Lys407AlafsTer7
ENST00000323977.7:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	ENSP00000326094.3:p.Lys407AlafsTer7
ENST00000393241.8:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	ENSP00000376933.4:p.Lys407AlafsTer7
ENST00000407439.7:c.1227_1228insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	ENSP00000385614.3:p.Lys410AlafsTer7
NM_005590.3:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	NP_005581.2:p.Lys407AlafsTer7
NM_005591.3:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT , LRG_85t1:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	NP_005582.1:p.Lys407AlafsTer7
XM_005274008.2:c.750_751insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	XP_005274065.1:p.Lys251AlafsTer7
XM_006718842.2:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	XP_006718905.1:p.Lys407AlafsTer7
XM_011542837.1:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	XP_011541139.1:p.Lys407AlafsTer7
XR_947828.1:n.1514_1515insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT
NM_001330347.1:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	NP_001317276.1:p.Lys407AlafsTer7
XM_005274008.3:c.750_751insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	XP_005274065.1:p.Lys251AlafsTer7
XM_006718842.3:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	XP_006718905.1:p.Lys407AlafsTer7
XM_011542837.2:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	XP_011541139.1:p.Lys407AlafsTer7
XM_017017772.1:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	XP_016873261.1:p.Lys407AlafsTer7
XR_947828.2:n.1514_1515insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT
NM_001330347.2:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	NP_001317276.1:p.Lys407AlafsTer7
NM_005590.4:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT	NP_005581.2:p.Lys407AlafsTer7
NM_005591.4:c.1218_1219insGCTAGTTCTTTTGTTAGTTAGTTATTTTTATGGTAAATAT MANE Select	NP_005582.1:p.Lys407AlafsTer7