MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806589_47806607dup , CM000664.2:g.47806589_47806607dup | GRCh38 |
| NC_000002.11:g.48033728_48033746dup , CM000664.1:g.48033728_48033746dup | GRCh37 |
| NC_000002.10:g.47887232_47887250dup | NCBI36 |
| NG_007111.1:g.28443_28461dup , LRG_219:g.28443_28461dup | |
| NG_008397.1:g.104069_104087dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3642_3660dup (MSH6) | ENSP00000406248.2:p.Ala1221SerfsTer5 | |
| ENST00000420813.6:c.3642_3660dup (MSH6) | ENSP00000390382.2:p.Ala1221SerfsTer5 | |
| ENST00000455383.6:c.3642_3660dup (MSH6) | ENSP00000397484.2:p.Ala1221SerfsTer5 | |
| ENST00000700004.2:c.3555_3573dup (MSH6) | ENSP00000514752.2:p.Ala1192SerfsTer5 | |
| ENST00000699999.1:n.4613_4631dup (MSH6) | ||
| ENST00000700000.1:c.2373_2391dup (MSH6) | ENSP00000514749.1:p.Ala798SerfsTer5 | |
| ENST00000700002.1:c.3945_3963dup (MSH6) | ENSP00000514750.1:p.Ala1322SerfsTer5 | |
| ENST00000700003.1:c.1394_1412dup (MSH6) | ENSP00000514751.1:n.1394_1412dup | |
| ENST00000700004.1:c.2712_2730dup (MSH6) | ENSP00000514752.1:p.Ala911SerfsTer5 | |
| ENST00000700005.1:n.2790_2808dup (MSH6) | ||
| ENST00000700006.1:n.5097_5115dup (MSH6) | ||
| ENST00000700007.1:n.2534_2552dup (MSH6) | ||
| ENST00000700008.1:n.2201_2219dup (MSH6) | ||
| ENST00000700009.1:n.2603_2621dup (MSH6) | ||
| ENST00000700010.1:n.1348_1366dup (MSH6) | ||
| ENST00000700011.1:n.3233_3251dup (MSH6) | ||
| ENST00000682451.1:n.4141_4159dup (FBXO11) | ||
| ENST00000684712.1:n.4403_4421dup (FBXO11) | ||
| ENST00000234420.11:c.3939_3957dup (MSH6) MANE Select | ENSP00000234420.5:p.Ala1320SerfsTer5 | |
| ENST00000540021.6:c.3549_3567dup (MSH6) | ENSP00000446475.1:p.Ala1190SerfsTer5 | |
| ENST00000652107.1:c.3642_3660dup (MSH6) | ENSP00000498629.1:p.Ala1221SerfsTer5 | |
| ENST00000673637.1:c.3642_3660dup (MSH6) | ENSP00000501310.1:p.Ala1221SerfsTer5 | |
| ENST00000234420.9:c.3939_3957dup (MSH6) | ENSP00000234420.4:p.Ala1320SerfsTer5 | |
| ENST00000405808.5:c.169+1588_169+1606dup (FBXO11) | ENSP00000385127.1:n.169+1588_169+1606dup | |
| ENST00000434234.5:c.*124+1387_*124+1405dup (FBXO11) | ENSP00000402692.1:n.*124+1387_*124+1405dup | |
| ENST00000445503.5:c.*3286_*3304dup (MSH6) | ENSP00000405294.1:n.*3286_*3304dup | |
| ENST00000538136.1:c.3033_3051dup (MSH6) | ENSP00000438580.1:p.Ala1018SerfsTer5 | |
| ENST00000540021.5:c.3549_3567dup (MSH6) | ENSP00000446475.1:p.Ala1190SerfsTer5 | |
| ENST00000614496.4:c.3033_3051dup (MSH6) | ENSP00000477844.1:p.Ala1018SerfsTer5 | |
| ENST00000622629.4:c.840_858dup (MSH6) | ENSP00000482078.1:p.Ala287SerfsTer5 | |
| NM_000179.2:c.3939_3957dup , LRG_219t1:c.3939_3957dup (MSH6) | NP_000170.1:p.Ala1320SerfsTer5 | |
| NM_001281492.1:c.3549_3567dup (MSH6) | NP_001268421.1:p.Ala1190SerfsTer5 | |
| NM_001281493.1:c.3033_3051dup (MSH6) | NP_001268422.1:p.Ala1018SerfsTer5 | |
| NM_001281494.1:c.3033_3051dup (MSH6) | NP_001268423.1:p.Ala1018SerfsTer5 | |
| XM_005264271.1:c.3642_3660dup (MSH6) | XP_005264328.1:p.Ala1221SerfsTer5 | |
| XM_011532798.1:c.3756_3774dup (MSH6) | XP_011531100.1:p.Ala1259SerfsTer5 | |
| XM_011532799.1:c.3642_3660dup (MSH6) | XP_011531101.1:p.Ala1221SerfsTer5 | |
| XM_011532800.1:c.3642_3660dup (MSH6) | XP_011531102.1:p.Ala1221SerfsTer5 | |
| XM_024452819.1:c.4032_4050dup (MSH6) | XP_024308587.1:p.Ala1351SerfsTer5 | |
| XM_024452820.1:c.3849_3867dup (MSH6) | XP_024308588.1:p.Ala1290SerfsTer5 | |
| XM_024452821.1:c.3735_3753dup (MSH6) | XP_024308589.1:p.Ala1252SerfsTer5 | |
| XM_024452822.1:c.3126_3144dup (MSH6) | XP_024308590.1:p.Ala1049SerfsTer5 | |
| NM_000179.3:c.3939_3957dup (MSH6) MANE Select | NP_000170.1:p.Ala1320SerfsTer5 | |
| NM_001281492.2:c.3549_3567dup (MSH6) | NP_001268421.1:p.Ala1190SerfsTer5 | |
| NM_001281493.2:c.3033_3051dup (MSH6) | NP_001268422.1:p.Ala1018SerfsTer5 | |
| NM_001281494.2:c.3033_3051dup (MSH6) | NP_001268423.1:p.Ala1018SerfsTer5 |