ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806262_47806265del , CM000664.2:g.47806262_47806265del | GRCh38 |
| NC_000002.11:g.48033401_48033404del , CM000664.1:g.48033401_48033404del | GRCh37 |
| NC_000002.10:g.47886905_47886908del | NCBI36 |
| NG_007111.1:g.28116_28119del , LRG_219:g.28116_28119del | |
| NG_008397.1:g.104413_104416del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3408_3411del (MSH6) | ENSP00000406248.2:p.Ala1137ArgfsTer3 | |
| ENST00000420813.6:c.3408_3411del (MSH6) | ENSP00000390382.2:p.Ala1137ArgfsTer3 | |
| ENST00000455383.6:c.3408_3411del (MSH6) | ENSP00000397484.2:p.Ala1137ArgfsTer3 | |
| ENST00000700004.2:c.3321_3324del (MSH6) | ENSP00000514752.2:p.Ala1108ArgfsTer3 | |
| ENST00000699999.1:n.4379_4382del (MSH6) | ||
| ENST00000700000.1:c.2139_2142del (MSH6) | ENSP00000514749.1:p.Ala714ArgfsTer3 | |
| ENST00000700002.1:c.3711_3714del (MSH6) | ENSP00000514750.1:p.Ala1238ArgfsTer3 | |
| ENST00000700003.1:c.1160_1163del (MSH6) | ENSP00000514751.1:n.1160_1163del | |
| ENST00000700004.1:c.2478_2481del (MSH6) | ENSP00000514752.1:p.Ala827ArgfsTer3 | |
| ENST00000700005.1:n.2556_2559del (MSH6) | ||
| ENST00000700006.1:n.4863_4866del (MSH6) | ||
| ENST00000700007.1:n.2300_2303del (MSH6) | ||
| ENST00000700008.1:n.1874_1877del (MSH6) | ||
| ENST00000700009.1:n.2369_2372del (MSH6) | ||
| ENST00000700010.1:n.1114_1117del (MSH6) | ||
| ENST00000700011.1:n.2999_3002del (MSH6) | ||
| ENST00000682451.1:n.4485_4488del (FBXO11) | ||
| ENST00000684712.1:n.4747_4750del (FBXO11) | ||
| ENST00000234420.11:c.3705_3708del (MSH6) MANE Select | ENSP00000234420.5:p.Ala1236ArgfsTer3 | |
| ENST00000540021.6:c.3315_3318del (MSH6) | ENSP00000446475.1:p.Ala1106ArgfsTer3 | |
| ENST00000652107.1:c.3408_3411del (MSH6) | ENSP00000498629.1:p.Ala1137ArgfsTer3 | |
| ENST00000673637.1:c.3408_3411del (MSH6) | ENSP00000501310.1:p.Ala1137ArgfsTer3 | |
| ENST00000234420.9:c.3705_3708del (MSH6) | ENSP00000234420.4:p.Ala1236ArgfsTer3 | |
| ENST00000405808.5:c.169+1932_169+1935del (FBXO11) | ENSP00000385127.1:n.169+1932_169+1935del | |
| ENST00000434234.5:c.*124+1731_*124+1734del (FBXO11) | ENSP00000402692.1:n.*124+1731_*124+1734del | |
| ENST00000445503.5:c.*3052_*3055del (MSH6) | ENSP00000405294.1:n.*3052_*3055del | |
| ENST00000538136.1:c.2799_2802del (MSH6) | ENSP00000438580.1:p.Ala934ArgfsTer3 | |
| ENST00000540021.5:c.3315_3318del (MSH6) | ENSP00000446475.1:p.Ala1106ArgfsTer3 | |
| ENST00000614496.4:c.2799_2802del (MSH6) | ENSP00000477844.1:p.Ala934ArgfsTer3 | |
| ENST00000622629.4:c.609_612del (MSH6) | ENSP00000482078.1:p.Ala204ArgfsTer3 | |
| NM_000179.2:c.3705_3708del , LRG_219t1:c.3705_3708del (MSH6) | NP_000170.1:p.Ala1236ArgfsTer3 | |
| NM_001281492.1:c.3315_3318del (MSH6) | NP_001268421.1:p.Ala1106ArgfsTer3 | |
| NM_001281493.1:c.2799_2802del (MSH6) | NP_001268422.1:p.Ala934ArgfsTer3 | |
| NM_001281494.1:c.2799_2802del (MSH6) | NP_001268423.1:p.Ala934ArgfsTer3 | |
| XM_005264271.1:c.3408_3411del (MSH6) | XP_005264328.1:p.Ala1137ArgfsTer3 | |
| XM_011532798.1:c.3522_3525del (MSH6) | XP_011531100.1:p.Ala1175ArgfsTer3 | |
| XM_011532799.1:c.3408_3411del (MSH6) | XP_011531101.1:p.Ala1137ArgfsTer3 | |
| XM_011532800.1:c.3408_3411del (MSH6) | XP_011531102.1:p.Ala1137ArgfsTer3 | |
| XM_024452819.1:c.3705_3708del (MSH6) | XP_024308587.1:p.Ala1236ArgfsTer3 | |
| XM_024452820.1:c.3522_3525del (MSH6) | XP_024308588.1:p.Ala1175ArgfsTer3 | |
| XM_024452821.1:c.3408_3411del (MSH6) | XP_024308589.1:p.Ala1137ArgfsTer3 | |
| XM_024452822.1:c.2799_2802del (MSH6) | XP_024308590.1:p.Ala934ArgfsTer3 | |
| NM_000179.3:c.3705_3708del (MSH6) MANE Select | NP_000170.1:p.Ala1236ArgfsTer3 | |
| NM_001281492.2:c.3315_3318del (MSH6) | NP_001268421.1:p.Ala1106ArgfsTer3 | |
| NM_001281493.2:c.2799_2802del (MSH6) | NP_001268422.1:p.Ala934ArgfsTer3 | |
| NM_001281494.2:c.2799_2802del (MSH6) | NP_001268423.1:p.Ala934ArgfsTer3 |