Canonical Allele Identifier: CA645369292

Linked Data

ClinVar Variation Id: 428329
dbSNP Id: rs1114167720

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806491_47806497dup , CM000664.2:g.47806491_47806497dup GRCh38
NC_000002.11:g.48033630_48033636dup , CM000664.1:g.48033630_48033636dup GRCh37
NC_000002.10:g.47887134_47887140dup NCBI36
NG_007111.1:g.28345_28351dup , LRG_219:g.28345_28351dup
NG_008397.1:g.104179_104185dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3544_3550dup (MSH6) ENSP00000406248.2:p.Ile1184ArgfsTer8
ENST00000420813.6:c.3544_3550dup (MSH6) ENSP00000390382.2:p.Ile1184ArgfsTer8
ENST00000455383.6:c.3544_3550dup (MSH6) ENSP00000397484.2:p.Ile1184ArgfsTer8
ENST00000700004.2:c.3457_3463dup (MSH6) ENSP00000514752.2:p.Ile1155ArgfsTer8
ENST00000699999.1:n.4515_4521dup (MSH6)
ENST00000700000.1:c.2275_2281dup (MSH6) ENSP00000514749.1:p.Ile761ArgfsTer8
ENST00000700002.1:c.3847_3853dup (MSH6) ENSP00000514750.1:p.Ile1285ArgfsTer8
ENST00000700003.1:c.1296_1302dup (MSH6) ENSP00000514751.1:n.1296_1302dup
ENST00000700004.1:c.2614_2620dup (MSH6) ENSP00000514752.1:p.Ile874ArgfsTer8
ENST00000700005.1:n.2692_2698dup (MSH6)
ENST00000700006.1:n.4999_5005dup (MSH6)
ENST00000700007.1:n.2436_2442dup (MSH6)
ENST00000700008.1:n.2103_2109dup (MSH6)
ENST00000700009.1:n.2505_2511dup (MSH6)
ENST00000700010.1:n.1250_1256dup (MSH6)
ENST00000700011.1:n.3135_3141dup (MSH6)
ENST00000682451.1:n.4251_4257dup (FBXO11)
ENST00000684712.1:n.4513_4519dup (FBXO11)
ENST00000234420.11:c.3841_3847dup (MSH6) MANE Select ENSP00000234420.5:p.Ile1283ArgfsTer8
ENST00000540021.6:c.3451_3457dup (MSH6) ENSP00000446475.1:p.Ile1153ArgfsTer8
ENST00000652107.1:c.3544_3550dup (MSH6) ENSP00000498629.1:p.Ile1184ArgfsTer8
ENST00000673637.1:c.3544_3550dup (MSH6) ENSP00000501310.1:p.Ile1184ArgfsTer8
ENST00000234420.9:c.3841_3847dup (MSH6) ENSP00000234420.4:p.Ile1283ArgfsTer8
ENST00000405808.5:c.169+1698_169+1704dup (FBXO11) ENSP00000385127.1:n.169+1698_169+1704dup
ENST00000434234.5:c.*124+1497_*124+1503dup (FBXO11) ENSP00000402692.1:n.*124+1497_*124+1503dup
ENST00000445503.5:c.*3188_*3194dup (MSH6) ENSP00000405294.1:n.*3188_*3194dup
ENST00000538136.1:c.2935_2941dup (MSH6) ENSP00000438580.1:p.Ile981ArgfsTer8
ENST00000540021.5:c.3451_3457dup (MSH6) ENSP00000446475.1:p.Ile1153ArgfsTer8
ENST00000614496.4:c.2935_2941dup (MSH6) ENSP00000477844.1:p.Ile981ArgfsTer8
ENST00000622629.4:c.742_748dup (MSH6) ENSP00000482078.1:p.Ile250ArgfsTer8
NM_000179.2:c.3841_3847dup , LRG_219t1:c.3841_3847dup (MSH6) NP_000170.1:p.Ile1283ArgfsTer8
NM_001281492.1:c.3451_3457dup (MSH6) NP_001268421.1:p.Ile1153ArgfsTer8
NM_001281493.1:c.2935_2941dup (MSH6) NP_001268422.1:p.Ile981ArgfsTer8
NM_001281494.1:c.2935_2941dup (MSH6) NP_001268423.1:p.Ile981ArgfsTer8
XM_005264271.1:c.3544_3550dup (MSH6) XP_005264328.1:p.Ile1184ArgfsTer8
XM_011532798.1:c.3658_3664dup (MSH6) XP_011531100.1:p.Ile1222ArgfsTer8
XM_011532799.1:c.3544_3550dup (MSH6) XP_011531101.1:p.Ile1184ArgfsTer8
XM_011532800.1:c.3544_3550dup (MSH6) XP_011531102.1:p.Ile1184ArgfsTer8
XM_024452819.1:c.3934_3940dup (MSH6) XP_024308587.1:p.Ile1314ArgfsTer8
XM_024452820.1:c.3751_3757dup (MSH6) XP_024308588.1:p.Ile1253ArgfsTer8
XM_024452821.1:c.3637_3643dup (MSH6) XP_024308589.1:p.Ile1215ArgfsTer8
XM_024452822.1:c.3028_3034dup (MSH6) XP_024308590.1:p.Ile1012ArgfsTer8
NM_000179.3:c.3841_3847dup (MSH6) MANE Select NP_000170.1:p.Ile1283ArgfsTer8
NM_001281492.2:c.3451_3457dup (MSH6) NP_001268421.1:p.Ile1153ArgfsTer8
NM_001281493.2:c.2935_2941dup (MSH6) NP_001268422.1:p.Ile981ArgfsTer8
NM_001281494.2:c.2935_2941dup (MSH6) NP_001268423.1:p.Ile981ArgfsTer8