ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806254_47806264del , CM000664.2:g.47806254_47806264del | GRCh38 |
| NC_000002.11:g.48033393_48033403del , CM000664.1:g.48033393_48033403del | GRCh37 |
| NC_000002.10:g.47886897_47886907del | NCBI36 |
| NG_007111.1:g.28108_28118del , LRG_219:g.28108_28118del | |
| NG_008397.1:g.104412_104422del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3400_3410del (MSH6) | ENSP00000406248.2:p.Lys1134Ter | |
| ENST00000420813.6:c.3400_3410del (MSH6) | ENSP00000390382.2:p.Lys1134Ter | |
| ENST00000455383.6:c.3400_3410del (MSH6) | ENSP00000397484.2:p.Lys1134Ter | |
| ENST00000700004.2:c.3313_3323del (MSH6) | ENSP00000514752.2:p.Lys1105Ter | |
| ENST00000699999.1:n.4371_4381del (MSH6) | ||
| ENST00000700000.1:c.2131_2141del (MSH6) | ENSP00000514749.1:p.Lys711Ter | |
| ENST00000700002.1:c.3703_3713del (MSH6) | ENSP00000514750.1:p.Lys1235Ter | |
| ENST00000700003.1:c.1152_1162del (MSH6) | ENSP00000514751.1:n.1152_1162del | |
| ENST00000700004.1:c.2470_2480del (MSH6) | ENSP00000514752.1:p.Lys824Ter | |
| ENST00000700005.1:n.2548_2558del (MSH6) | ||
| ENST00000700006.1:n.4855_4865del (MSH6) | ||
| ENST00000700007.1:n.2292_2302del (MSH6) | ||
| ENST00000700008.1:n.1866_1876del (MSH6) | ||
| ENST00000700009.1:n.2361_2371del (MSH6) | ||
| ENST00000700010.1:n.1106_1116del (MSH6) | ||
| ENST00000700011.1:n.2991_3001del (MSH6) | ||
| ENST00000682451.1:n.4484_4494del (FBXO11) | ||
| ENST00000684712.1:n.4746_4756del (FBXO11) | ||
| ENST00000234420.11:c.3697_3707del (MSH6) MANE Select | ENSP00000234420.5:p.Lys1233Ter | |
| ENST00000540021.6:c.3307_3317del (MSH6) | ENSP00000446475.1:p.Lys1103Ter | |
| ENST00000652107.1:c.3400_3410del (MSH6) | ENSP00000498629.1:p.Lys1134Ter | |
| ENST00000673637.1:c.3400_3410del (MSH6) | ENSP00000501310.1:p.Lys1134Ter | |
| ENST00000234420.9:c.3697_3707del (MSH6) | ENSP00000234420.4:p.Lys1233Ter | |
| ENST00000405808.5:c.169+1931_169+1941del (FBXO11) | ENSP00000385127.1:n.169+1931_169+1941del | |
| ENST00000434234.5:c.*124+1730_*124+1740del (FBXO11) | ENSP00000402692.1:n.*124+1730_*124+1740del | |
| ENST00000445503.5:c.*3044_*3054del (MSH6) | ENSP00000405294.1:n.*3044_*3054del | |
| ENST00000538136.1:c.2791_2801del (MSH6) | ENSP00000438580.1:p.Lys931Ter | |
| ENST00000540021.5:c.3307_3317del (MSH6) | ENSP00000446475.1:p.Lys1103Ter | |
| ENST00000614496.4:c.2791_2801del (MSH6) | ENSP00000477844.1:p.Lys931Ter | |
| ENST00000622629.4:c.601_611del (MSH6) | ENSP00000482078.1:p.Lys201Ter | |
| NM_000179.2:c.3697_3707del , LRG_219t1:c.3697_3707del (MSH6) | NP_000170.1:p.Lys1233Ter | |
| NM_001281492.1:c.3307_3317del (MSH6) | NP_001268421.1:p.Lys1103Ter | |
| NM_001281493.1:c.2791_2801del (MSH6) | NP_001268422.1:p.Lys931Ter | |
| NM_001281494.1:c.2791_2801del (MSH6) | NP_001268423.1:p.Lys931Ter | |
| XM_005264271.1:c.3400_3410del (MSH6) | XP_005264328.1:p.Lys1134Ter | |
| XM_011532798.1:c.3514_3524del (MSH6) | XP_011531100.1:p.Lys1172Ter | |
| XM_011532799.1:c.3400_3410del (MSH6) | XP_011531101.1:p.Lys1134Ter | |
| XM_011532800.1:c.3400_3410del (MSH6) | XP_011531102.1:p.Lys1134Ter | |
| XM_024452819.1:c.3697_3707del (MSH6) | XP_024308587.1:p.Lys1233Ter | |
| XM_024452820.1:c.3514_3524del (MSH6) | XP_024308588.1:p.Lys1172Ter | |
| XM_024452821.1:c.3400_3410del (MSH6) | XP_024308589.1:p.Lys1134Ter | |
| XM_024452822.1:c.2791_2801del (MSH6) | XP_024308590.1:p.Lys931Ter | |
| NM_000179.3:c.3697_3707del (MSH6) MANE Select | NP_000170.1:p.Lys1233Ter | |
| NM_001281492.2:c.3307_3317del (MSH6) | NP_001268421.1:p.Lys1103Ter | |
| NM_001281493.2:c.2791_2801del (MSH6) | NP_001268422.1:p.Lys931Ter | |
| NM_001281494.2:c.2791_2801del (MSH6) | NP_001268423.1:p.Lys931Ter |