Canonical Allele Identifier: CA1139656967

Linked Data

ClinVar Variation Id: 987289
ClinVar RCV Id: RCV001268608
dbSNP Id: rs1669960668

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805640dup , CM000664.2:g.47805640dup GRCh38
NC_000002.11:g.48032779dup , CM000664.1:g.48032779dup GRCh37
NC_000002.10:g.47886283dup NCBI36
NG_007111.1:g.27494dup , LRG_219:g.27494dup
NG_008397.1:g.105037dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3282dup (MSH6) ENSP00000406248.2:p.Leu1095IlefsTer3
ENST00000420813.6:c.3282dup (MSH6) ENSP00000390382.2:p.Leu1095IlefsTer3
ENST00000455383.6:c.3282dup (MSH6) ENSP00000397484.2:p.Leu1095IlefsTer3
ENST00000700004.2:c.3195dup (MSH6) ENSP00000514752.2:p.Leu1066IlefsTer3
ENST00000699999.1:n.4253dup (MSH6)
ENST00000700000.1:c.2013dup (MSH6) ENSP00000514749.1:p.Leu672IlefsTer3
ENST00000700002.1:c.3585dup (MSH6) ENSP00000514750.1:p.Leu1196IlefsTer3
ENST00000700003.1:c.1034dup (MSH6) ENSP00000514751.1:n.1034dup
ENST00000700004.1:c.2352dup (MSH6) ENSP00000514752.1:p.Leu785IlefsTer3
ENST00000700005.1:n.2430dup (MSH6)
ENST00000700006.1:n.4241dup (MSH6)
ENST00000700007.1:n.2174dup (MSH6)
ENST00000700008.1:n.1748dup (MSH6)
ENST00000700009.1:n.1747dup (MSH6)
ENST00000700010.1:n.988dup (MSH6)
ENST00000700011.1:n.2873dup (MSH6)
ENST00000234420.11:c.3579dup (MSH6) MANE Select ENSP00000234420.5:p.Leu1194IlefsTer3
ENST00000540021.6:c.3189dup (MSH6) ENSP00000446475.1:p.Leu1064IlefsTer3
ENST00000652107.1:c.3282dup (MSH6) ENSP00000498629.1:p.Leu1095IlefsTer3
ENST00000673637.1:c.3282dup (MSH6) ENSP00000501310.1:p.Leu1095IlefsTer3
ENST00000234420.9:c.3579dup (MSH6) ENSP00000234420.4:p.Leu1194IlefsTer3
ENST00000405808.5:c.169+2556dup (FBXO11) ENSP00000385127.1:n.169+2556dup
ENST00000434234.5:c.*124+2355dup (FBXO11) ENSP00000402692.1:n.*124+2355dup
ENST00000445503.5:c.*2926dup (MSH6) ENSP00000405294.1:n.*2926dup
ENST00000538136.1:c.2673dup (MSH6) ENSP00000438580.1:p.Leu892IlefsTer3
ENST00000540021.5:c.3189dup (MSH6) ENSP00000446475.1:p.Leu1064IlefsTer3
ENST00000614496.4:c.2673dup (MSH6) ENSP00000477844.1:p.Leu892IlefsTer3
ENST00000622629.4:c.483dup (MSH6) ENSP00000482078.1:p.Leu162IlefsTer3
NM_000179.2:c.3579dup , LRG_219t1:c.3579dup (MSH6) NP_000170.1:p.Leu1194IlefsTer3
NM_001281492.1:c.3189dup (MSH6) NP_001268421.1:p.Leu1064IlefsTer3
NM_001281493.1:c.2673dup (MSH6) NP_001268422.1:p.Leu892IlefsTer3
NM_001281494.1:c.2673dup (MSH6) NP_001268423.1:p.Leu892IlefsTer3
XM_005264271.1:c.3282dup (MSH6) XP_005264328.1:p.Leu1095IlefsTer3
XM_011532798.1:c.3396dup (MSH6) XP_011531100.1:p.Leu1133IlefsTer3
XM_011532799.1:c.3282dup (MSH6) XP_011531101.1:p.Leu1095IlefsTer3
XM_011532800.1:c.3282dup (MSH6) XP_011531102.1:p.Leu1095IlefsTer3
XM_024452819.1:c.3579dup (MSH6) XP_024308587.1:p.Leu1194IlefsTer3
XM_024452820.1:c.3396dup (MSH6) XP_024308588.1:p.Leu1133IlefsTer3
XM_024452821.1:c.3282dup (MSH6) XP_024308589.1:p.Leu1095IlefsTer3
XM_024452822.1:c.2673dup (MSH6) XP_024308590.1:p.Leu892IlefsTer3
NM_000179.3:c.3579dup (MSH6) MANE Select NP_000170.1:p.Leu1194IlefsTer3
NM_001281492.2:c.3189dup (MSH6) NP_001268421.1:p.Leu1064IlefsTer3
NM_001281493.2:c.2673dup (MSH6) NP_001268422.1:p.Leu892IlefsTer3
NM_001281494.2:c.2673dup (MSH6) NP_001268423.1:p.Leu892IlefsTer3