Canonical Allele Identifier: CA072217

Linked Data

ClinVar Variation Id: 410530
dbSNP Id: rs1553333420

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806498_47806500dup , CM000664.2:g.47806498_47806500dup GRCh38
NC_000002.11:g.48033637_48033639dup , CM000664.1:g.48033637_48033639dup GRCh37
NC_000002.10:g.47887141_47887143dup NCBI36
NG_007111.1:g.28352_28354dup , LRG_219:g.28352_28354dup
NG_008397.1:g.104178_104180dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3551_3553dup (MSH6) ENSP00000406248.2:p.Ile1184_Thr1185insIle
ENST00000420813.6:c.3551_3553dup (MSH6) ENSP00000390382.2:p.Ile1184_Thr1185insIle
ENST00000455383.6:c.3551_3553dup (MSH6) ENSP00000397484.2:p.Ile1184_Thr1185insIle
ENST00000700004.2:c.3464_3466dup (MSH6) ENSP00000514752.2:p.Ile1155_Thr1156insIle
ENST00000699999.1:n.4522_4524dup (MSH6)
ENST00000700000.1:c.2282_2284dup (MSH6) ENSP00000514749.1:p.Ile761_Thr762insIle
ENST00000700002.1:c.3854_3856dup (MSH6) ENSP00000514750.1:p.Ile1285_Thr1286insIle
ENST00000700003.1:c.1303_1305dup (MSH6) ENSP00000514751.1:n.1303_1305dup
ENST00000700004.1:c.2621_2623dup (MSH6) ENSP00000514752.1:p.Ile874_Thr875insIle
ENST00000700005.1:n.2699_2701dup (MSH6)
ENST00000700006.1:n.5006_5008dup (MSH6)
ENST00000700007.1:n.2443_2445dup (MSH6)
ENST00000700008.1:n.2110_2112dup (MSH6)
ENST00000700009.1:n.2512_2514dup (MSH6)
ENST00000700010.1:n.1257_1259dup (MSH6)
ENST00000700011.1:n.3142_3144dup (MSH6)
ENST00000682451.1:n.4250_4252dup (FBXO11)
ENST00000684712.1:n.4512_4514dup (FBXO11)
ENST00000234420.11:c.3848_3850dup (MSH6) MANE Select ENSP00000234420.5:p.Ile1283_Thr1284insIle
ENST00000540021.6:c.3458_3460dup (MSH6) ENSP00000446475.1:p.Ile1153_Thr1154insIle
ENST00000652107.1:c.3551_3553dup (MSH6) ENSP00000498629.1:p.Ile1184_Thr1185insIle
ENST00000673637.1:c.3551_3553dup (MSH6) ENSP00000501310.1:p.Ile1184_Thr1185insIle
ENST00000234420.9:c.3848_3850dup (MSH6) ENSP00000234420.4:p.Ile1283_Thr1284insIle
ENST00000405808.5:c.169+1697_169+1699dup (FBXO11) ENSP00000385127.1:n.169+1697_169+1699dup
ENST00000434234.5:c.*124+1496_*124+1498dup (FBXO11) ENSP00000402692.1:n.*124+1496_*124+1498dup
ENST00000445503.5:c.*3195_*3197dup (MSH6) ENSP00000405294.1:n.*3195_*3197dup
ENST00000538136.1:c.2942_2944dup (MSH6) ENSP00000438580.1:p.Ile981_Thr982insIle
ENST00000540021.5:c.3458_3460dup (MSH6) ENSP00000446475.1:p.Ile1153_Thr1154insIle
ENST00000614496.4:c.2942_2944dup (MSH6) ENSP00000477844.1:p.Ile981_Thr982insIle
ENST00000622629.4:c.749_751dup (MSH6) ENSP00000482078.1:p.Ile250_Thr251insIle
NM_000179.2:c.3848_3850dup , LRG_219t1:c.3848_3850dup (MSH6) NP_000170.1:p.Ile1283_Thr1284insIle
NM_001281492.1:c.3458_3460dup (MSH6) NP_001268421.1:p.Ile1153_Thr1154insIle
NM_001281493.1:c.2942_2944dup (MSH6) NP_001268422.1:p.Ile981_Thr982insIle
NM_001281494.1:c.2942_2944dup (MSH6) NP_001268423.1:p.Ile981_Thr982insIle
XM_005264271.1:c.3551_3553dup (MSH6) XP_005264328.1:p.Ile1184_Thr1185insIle
XM_011532798.1:c.3665_3667dup (MSH6) XP_011531100.1:p.Ile1222_Thr1223insIle
XM_011532799.1:c.3551_3553dup (MSH6) XP_011531101.1:p.Ile1184_Thr1185insIle
XM_011532800.1:c.3551_3553dup (MSH6) XP_011531102.1:p.Ile1184_Thr1185insIle
XM_024452819.1:c.3941_3943dup (MSH6) XP_024308587.1:p.Ile1314_Thr1315insIle
XM_024452820.1:c.3758_3760dup (MSH6) XP_024308588.1:p.Ile1253_Thr1254insIle
XM_024452821.1:c.3644_3646dup (MSH6) XP_024308589.1:p.Ile1215_Thr1216insIle
XM_024452822.1:c.3035_3037dup (MSH6) XP_024308590.1:p.Ile1012_Thr1013insIle
NM_000179.3:c.3848_3850dup (MSH6) MANE Select NP_000170.1:p.Ile1283_Thr1284insIle
NM_001281492.2:c.3458_3460dup (MSH6) NP_001268421.1:p.Ile1153_Thr1154insIle
NM_001281493.2:c.2942_2944dup (MSH6) NP_001268422.1:p.Ile981_Thr982insIle
NM_001281494.2:c.2942_2944dup (MSH6) NP_001268423.1:p.Ile981_Thr982insIle