Canonical Allele Identifier: CA2586964933

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806624_47806633dup , CM000664.2:g.47806624_47806633dup GRCh38
NC_000002.11:g.48033763_48033772dup , CM000664.1:g.48033763_48033772dup GRCh37
NC_000002.10:g.47887267_47887276dup NCBI36
NG_007111.1:g.28478_28487dup , LRG_219:g.28478_28487dup
NG_008397.1:g.104044_104053dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3677_3686dup (MSH6) ENSP00000406248.2:p.Ser1230AspfsTer15
ENST00000420813.6:c.3677_3686dup (MSH6) ENSP00000390382.2:p.Ser1230AspfsTer15
ENST00000455383.6:c.3677_3686dup (MSH6) ENSP00000397484.2:p.Ser1230AspfsTer15
ENST00000700004.2:c.3590_3599dup (MSH6) ENSP00000514752.2:p.Ser1201AspfsTer15
ENST00000699999.1:n.4648_4657dup (MSH6)
ENST00000700000.1:c.2408_2417dup (MSH6) ENSP00000514749.1:p.Ser807AspfsTer15
ENST00000700002.1:c.3980_3989dup (MSH6) ENSP00000514750.1:p.Ser1331AspfsTer15
ENST00000700003.1:c.1429_1438dup (MSH6) ENSP00000514751.1:n.1429_1438dup
ENST00000700004.1:c.2747_2756dup (MSH6) ENSP00000514752.1:p.Ser920AspfsTer15
ENST00000700005.1:n.2825_2834dup (MSH6)
ENST00000700006.1:n.5132_5141dup (MSH6)
ENST00000700007.1:n.2569_2578dup (MSH6)
ENST00000700008.1:n.2236_2245dup (MSH6)
ENST00000700009.1:n.2638_2647dup (MSH6)
ENST00000700010.1:n.1383_1392dup (MSH6)
ENST00000700011.1:n.3268_3277dup (MSH6)
ENST00000682451.1:n.4116_4125dup (FBXO11)
ENST00000684712.1:n.4378_4387dup (FBXO11)
ENST00000234420.11:c.3974_3983dup (MSH6) MANE Select ENSP00000234420.5:p.Ser1329AspfsTer15
ENST00000540021.6:c.3584_3593dup (MSH6) ENSP00000446475.1:p.Ser1199AspfsTer15
ENST00000652107.1:c.3677_3686dup (MSH6) ENSP00000498629.1:p.Ser1230AspfsTer15
ENST00000673637.1:c.3677_3686dup (MSH6) ENSP00000501310.1:p.Ser1230AspfsTer15
ENST00000234420.9:c.3974_3983dup (MSH6) ENSP00000234420.4:p.Ser1329AspfsTer15
ENST00000405808.5:c.169+1563_169+1572dup (FBXO11) ENSP00000385127.1:n.169+1563_169+1572dup
ENST00000434234.5:c.*124+1362_*124+1371dup (FBXO11) ENSP00000402692.1:n.*124+1362_*124+1371dup
ENST00000445503.5:c.*3321_*3330dup (MSH6) ENSP00000405294.1:n.*3321_*3330dup
ENST00000538136.1:c.3068_3077dup (MSH6) ENSP00000438580.1:p.Ser1027AspfsTer15
ENST00000540021.5:c.3584_3593dup (MSH6) ENSP00000446475.1:p.Ser1199AspfsTer15
ENST00000614496.4:c.3068_3077dup (MSH6) ENSP00000477844.1:p.Ser1027AspfsTer15
ENST00000622629.4:c.875_884dup (MSH6) ENSP00000482078.1:p.Ser296AspfsTer15
NM_000179.2:c.3974_3983dup , LRG_219t1:c.3974_3983dup (MSH6) NP_000170.1:p.Ser1329AspfsTer15
NM_001281492.1:c.3584_3593dup (MSH6) NP_001268421.1:p.Ser1199AspfsTer15
NM_001281493.1:c.3068_3077dup (MSH6) NP_001268422.1:p.Ser1027AspfsTer15
NM_001281494.1:c.3068_3077dup (MSH6) NP_001268423.1:p.Ser1027AspfsTer15
XM_005264271.1:c.3677_3686dup (MSH6) XP_005264328.1:p.Ser1230AspfsTer15
XM_011532798.1:c.3791_3800dup (MSH6) XP_011531100.1:p.Ser1268AspfsTer15
XM_011532799.1:c.3677_3686dup (MSH6) XP_011531101.1:p.Ser1230AspfsTer15
XM_011532800.1:c.3677_3686dup (MSH6) XP_011531102.1:p.Ser1230AspfsTer15
XM_024452819.1:c.4067_4076dup (MSH6) XP_024308587.1:p.Ser1360AspfsTer15
XM_024452820.1:c.3884_3893dup (MSH6) XP_024308588.1:p.Ser1299AspfsTer15
XM_024452821.1:c.3770_3779dup (MSH6) XP_024308589.1:p.Ser1261AspfsTer15
XM_024452822.1:c.3161_3170dup (MSH6) XP_024308590.1:p.Ser1058AspfsTer15
NM_000179.3:c.3974_3983dup (MSH6) MANE Select NP_000170.1:p.Ser1329AspfsTer15
NM_001281492.2:c.3584_3593dup (MSH6) NP_001268421.1:p.Ser1199AspfsTer15
NM_001281493.2:c.3068_3077dup (MSH6) NP_001268422.1:p.Ser1027AspfsTer15
NM_001281494.2:c.3068_3077dup (MSH6) NP_001268423.1:p.Ser1027AspfsTer15