Canonical Allele Identifier: CA2582342380

Linked Data

ClinVar Variation Id: 2581460
ClinVar RCV Id: RCV003331865

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806462_47806488dup , CM000664.2:g.47806462_47806488dup GRCh38
NC_000002.11:g.48033601_48033627dup , CM000664.1:g.48033601_48033627dup GRCh37
NC_000002.10:g.47887105_47887131dup NCBI36
NG_007111.1:g.28316_28342dup , LRG_219:g.28316_28342dup
NG_008397.1:g.104188_104214dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3515_3541dup (MSH6) ENSP00000406248.2:p.Ser1180_Gln1181insLeuGluAsnGluCysGluAspPr...
ENST00000420813.6:c.3515_3541dup (MSH6) ENSP00000390382.2:p.Ser1180_Gln1181insLeuGluAsnGluCysGluAspPr...
ENST00000455383.6:c.3515_3541dup (MSH6) ENSP00000397484.2:p.Ser1180_Gln1181insLeuGluAsnGluCysGluAspPr...
ENST00000700004.2:c.3428_3454dup (MSH6) ENSP00000514752.2:p.Ser1151_Gln1152insLeuGluAsnGluCysGluAspPr...
ENST00000699999.1:n.4486_4512dup (MSH6)
ENST00000700000.1:c.2246_2272dup (MSH6) ENSP00000514749.1:p.Ser757_Gln758insLeuGluAsnGluCysGluAspProS...
ENST00000700002.1:c.3818_3844dup (MSH6) ENSP00000514750.1:p.Ser1281_Gln1282insLeuGluAsnGluCysGluAspPr...
ENST00000700003.1:c.1267_1293dup (MSH6) ENSP00000514751.1:n.1267_1293dup
ENST00000700004.1:c.2585_2611dup (MSH6) ENSP00000514752.1:p.Ser870_Gln871insLeuGluAsnGluCysGluAspProS...
ENST00000700005.1:n.2663_2689dup (MSH6)
ENST00000700006.1:n.4970_4996dup (MSH6)
ENST00000700007.1:n.2407_2433dup (MSH6)
ENST00000700008.1:n.2074_2100dup (MSH6)
ENST00000700009.1:n.2476_2502dup (MSH6)
ENST00000700010.1:n.1221_1247dup (MSH6)
ENST00000700011.1:n.3106_3132dup (MSH6)
ENST00000682451.1:n.4260_4286dup (FBXO11)
ENST00000684712.1:n.4522_4548dup (FBXO11)
ENST00000234420.11:c.3812_3838dup (MSH6) MANE Select ENSP00000234420.5:p.Ser1279_Gln1280insLeuGluAsnGluCysGluAspPr...
ENST00000540021.6:c.3422_3448dup (MSH6) ENSP00000446475.1:p.Ser1149_Gln1150insLeuGluAsnGluCysGluAspPr...
ENST00000652107.1:c.3515_3541dup (MSH6) ENSP00000498629.1:p.Ser1180_Gln1181insLeuGluAsnGluCysGluAspPr...
ENST00000673637.1:c.3515_3541dup (MSH6) ENSP00000501310.1:p.Ser1180_Gln1181insLeuGluAsnGluCysGluAspPr...
ENST00000234420.9:c.3812_3838dup (MSH6) ENSP00000234420.4:p.Ser1279_Gln1280insLeuGluAsnGluCysGluAspPr...
ENST00000405808.5:c.169+1707_169+1733dup (FBXO11) ENSP00000385127.1:n.169+1707_169+1733dup
ENST00000434234.5:c.*124+1506_*124+1532dup (FBXO11) ENSP00000402692.1:n.*124+1506_*124+1532dup
ENST00000445503.5:c.*3159_*3185dup (MSH6) ENSP00000405294.1:n.*3159_*3185dup
ENST00000538136.1:c.2906_2932dup (MSH6) ENSP00000438580.1:p.Ser977_Gln978insLeuGluAsnGluCysGluAspProS...
ENST00000540021.5:c.3422_3448dup (MSH6) ENSP00000446475.1:p.Ser1149_Gln1150insLeuGluAsnGluCysGluAspPr...
ENST00000614496.4:c.2906_2932dup (MSH6) ENSP00000477844.1:p.Ser977_Gln978insLeuGluAsnGluCysGluAspProS...
ENST00000622629.4:c.713_739dup (MSH6) ENSP00000482078.1:p.Ser246_Gln247insLeuGluAsnGluCysGluAspProS...
NM_000179.2:c.3812_3838dup , LRG_219t1:c.3812_3838dup (MSH6) NP_000170.1:p.Ser1279_Gln1280insLeuGluAsnGluCysGluAspProSer
NM_001281492.1:c.3422_3448dup (MSH6) NP_001268421.1:p.Ser1149_Gln1150insLeuGluAsnGluCysGluAspProSe...
NM_001281493.1:c.2906_2932dup (MSH6) NP_001268422.1:p.Ser977_Gln978insLeuGluAsnGluCysGluAspProSer
NM_001281494.1:c.2906_2932dup (MSH6) NP_001268423.1:p.Ser977_Gln978insLeuGluAsnGluCysGluAspProSer
XM_005264271.1:c.3515_3541dup (MSH6) XP_005264328.1:p.Ser1180_Gln1181insLeuGluAsnGluCysGluAspProSe...
XM_011532798.1:c.3629_3655dup (MSH6) XP_011531100.1:p.Ser1218_Gln1219insLeuGluAsnGluCysGluAspProSe...
XM_011532799.1:c.3515_3541dup (MSH6) XP_011531101.1:p.Ser1180_Gln1181insLeuGluAsnGluCysGluAspProSe...
XM_011532800.1:c.3515_3541dup (MSH6) XP_011531102.1:p.Ser1180_Gln1181insLeuGluAsnGluCysGluAspProSe...
XM_024452819.1:c.3905_3931dup (MSH6) XP_024308587.1:p.Ser1310_Gln1311insLeuGluAsnGluCysGluAspProSe...
XM_024452820.1:c.3722_3748dup (MSH6) XP_024308588.1:p.Ser1249_Gln1250insLeuGluAsnGluCysGluAspProSe...
XM_024452821.1:c.3608_3634dup (MSH6) XP_024308589.1:p.Ser1211_Gln1212insLeuGluAsnGluCysGluAspProSe...
XM_024452822.1:c.2999_3025dup (MSH6) XP_024308590.1:p.Ser1008_Gln1009insLeuGluAsnGluCysGluAspProSe...
NM_000179.3:c.3812_3838dup (MSH6) MANE Select NP_000170.1:p.Ser1279_Gln1280insLeuGluAsnGluCysGluAspProSer
NM_001281492.2:c.3422_3448dup (MSH6) NP_001268421.1:p.Ser1149_Gln1150insLeuGluAsnGluCysGluAspProSe...
NM_001281493.2:c.2906_2932dup (MSH6) NP_001268422.1:p.Ser977_Gln978insLeuGluAsnGluCysGluAspProSer
NM_001281494.2:c.2906_2932dup (MSH6) NP_001268423.1:p.Ser977_Gln978insLeuGluAsnGluCysGluAspProSer