Canonical Allele Identifier: CA014784

Linked Data

ClinVar Variation Id: 89485
dbSNP Id: rs267608126

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806588_47806591dup , CM000664.2:g.47806588_47806591dup GRCh38
NC_000002.11:g.48033727_48033730dup , CM000664.1:g.48033727_48033730dup GRCh37
NC_000002.10:g.47887231_47887234dup NCBI36
NG_007111.1:g.28442_28445dup , LRG_219:g.28442_28445dup
NG_008397.1:g.104086_104089dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3641_3644dup (MSH6) ENSP00000406248.2:p.Gln1215HisfsTer6
ENST00000420813.6:c.3641_3644dup (MSH6) ENSP00000390382.2:p.Gln1215HisfsTer6
ENST00000455383.6:c.3641_3644dup (MSH6) ENSP00000397484.2:p.Gln1215HisfsTer6
ENST00000700004.2:c.3554_3557dup (MSH6) ENSP00000514752.2:p.Gln1186HisfsTer6
ENST00000699999.1:n.4612_4615dup (MSH6)
ENST00000700000.1:c.2372_2375dup (MSH6) ENSP00000514749.1:p.Gln792HisfsTer6
ENST00000700002.1:c.3944_3947dup (MSH6) ENSP00000514750.1:p.Gln1316HisfsTer6
ENST00000700003.1:c.1393_1396dup (MSH6) ENSP00000514751.1:n.1393_1396dup
ENST00000700004.1:c.2711_2714dup (MSH6) ENSP00000514752.1:p.Gln905HisfsTer6
ENST00000700005.1:n.2789_2792dup (MSH6)
ENST00000700006.1:n.5096_5099dup (MSH6)
ENST00000700007.1:n.2533_2536dup (MSH6)
ENST00000700008.1:n.2200_2203dup (MSH6)
ENST00000700009.1:n.2602_2605dup (MSH6)
ENST00000700010.1:n.1347_1350dup (MSH6)
ENST00000700011.1:n.3232_3235dup (MSH6)
ENST00000682451.1:n.4158_4161dup (FBXO11)
ENST00000684712.1:n.4420_4423dup (FBXO11)
ENST00000234420.11:c.3938_3941dup (MSH6) MANE Select ENSP00000234420.5:p.Gln1314HisfsTer6
ENST00000540021.6:c.3548_3551dup (MSH6) ENSP00000446475.1:p.Gln1184HisfsTer6
ENST00000652107.1:c.3641_3644dup (MSH6) ENSP00000498629.1:p.Gln1215HisfsTer6
ENST00000673637.1:c.3641_3644dup (MSH6) ENSP00000501310.1:p.Gln1215HisfsTer6
ENST00000234420.9:c.3938_3941dup (MSH6) ENSP00000234420.4:p.Gln1314HisfsTer6
ENST00000405808.5:c.169+1605_169+1608dup (FBXO11) ENSP00000385127.1:n.169+1605_169+1608dup
ENST00000434234.5:c.*124+1404_*124+1407dup (FBXO11) ENSP00000402692.1:n.*124+1404_*124+1407du...
ENST00000445503.5:c.*3285_*3288dup (MSH6) ENSP00000405294.1:n.*3285_*3288dup
ENST00000538136.1:c.3032_3035dup (MSH6) ENSP00000438580.1:p.Gln1012HisfsTer6
ENST00000540021.5:c.3548_3551dup (MSH6) ENSP00000446475.1:p.Gln1184HisfsTer6
ENST00000614496.4:c.3032_3035dup (MSH6) ENSP00000477844.1:p.Gln1012HisfsTer6
ENST00000622629.4:c.839_842dup (MSH6) ENSP00000482078.1:p.Gln281HisfsTer6
NM_000179.2:c.3938_3941dup , LRG_219t1:c.3938_3941dup (MSH6) NP_000170.1:p.Gln1314HisfsTer6
NM_001281492.1:c.3548_3551dup (MSH6) NP_001268421.1:p.Gln1184HisfsTer6
NM_001281493.1:c.3032_3035dup (MSH6) NP_001268422.1:p.Gln1012HisfsTer6
NM_001281494.1:c.3032_3035dup (MSH6) NP_001268423.1:p.Gln1012HisfsTer6
XM_005264271.1:c.3641_3644dup (MSH6) XP_005264328.1:p.Gln1215HisfsTer6
XM_011532798.1:c.3755_3758dup (MSH6) XP_011531100.1:p.Gln1253HisfsTer6
XM_011532799.1:c.3641_3644dup (MSH6) XP_011531101.1:p.Gln1215HisfsTer6
XM_011532800.1:c.3641_3644dup (MSH6) XP_011531102.1:p.Gln1215HisfsTer6
XM_024452819.1:c.4031_4034dup (MSH6) XP_024308587.1:p.Gln1345HisfsTer6
XM_024452820.1:c.3848_3851dup (MSH6) XP_024308588.1:p.Gln1284HisfsTer6
XM_024452821.1:c.3734_3737dup (MSH6) XP_024308589.1:p.Gln1246HisfsTer6
XM_024452822.1:c.3125_3128dup (MSH6) XP_024308590.1:p.Gln1043HisfsTer6
NM_000179.3:c.3938_3941dup (MSH6) MANE Select NP_000170.1:p.Gln1314HisfsTer6
NM_001281492.2:c.3548_3551dup (MSH6) NP_001268421.1:p.Gln1184HisfsTer6
NM_001281493.2:c.3032_3035dup (MSH6) NP_001268422.1:p.Gln1012HisfsTer6
NM_001281494.2:c.3032_3035dup (MSH6) NP_001268423.1:p.Gln1012HisfsTer6