ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47803445_47803446del , CM000664.2:g.47803445_47803446del | GRCh38 |
| NC_000002.11:g.48030584_48030585del , CM000664.1:g.48030584_48030585del | GRCh37 |
| NC_000002.10:g.47884088_47884089del | NCBI36 |
| NG_007111.1:g.25299_25300del , LRG_219:g.25299_25300del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.2901_2902del (MSH6) | ENSP00000406248.2:p.Tyr967Ter | |
| ENST00000420813.6:c.2901_2902del (MSH6) | ENSP00000390382.2:p.Tyr967Ter | |
| ENST00000455383.6:c.2901_2902del (MSH6) | ENSP00000397484.2:p.Tyr967Ter | |
| ENST00000700004.2:c.3173-2173_3173-2172del (MSH6) | ENSP00000514752.2:n.3173-2173_3173-2172del | |
| ENST00000699999.1:n.3282_3283del (MSH6) | ||
| ENST00000700000.1:c.1632_1633del (MSH6) | ENSP00000514749.1:p.Tyr544Ter | |
| ENST00000700002.1:c.3204_3205del (MSH6) | ENSP00000514750.1:p.Tyr1068Ter | |
| ENST00000700003.1:c.653_654del (MSH6) | ENSP00000514751.1:p.Ile218SerfsTer? | |
| ENST00000700004.1:c.2330-2173_2330-2172del (MSH6) | ENSP00000514752.1:n.2330-2173_2330-2172del | |
| ENST00000700005.1:n.2049_2050del (MSH6) | ||
| ENST00000700006.1:n.2046_2047del (MSH6) | ||
| ENST00000700007.1:n.1203_1204del (MSH6) | ||
| ENST00000700008.1:n.777_778del (MSH6) | ||
| ENST00000700009.1:n.776_777del (MSH6) | ||
| ENST00000700010.1:n.607_608del (MSH6) | ||
| ENST00000700011.1:n.678_679del (MSH6) | ||
| ENST00000234420.11:c.3198_3199del (MSH6) MANE Select | ENSP00000234420.5:p.Tyr1066Ter | |
| ENST00000540021.6:c.2808_2809del (MSH6) | ENSP00000446475.1:p.Tyr936Ter | |
| ENST00000652107.1:c.2901_2902del (MSH6) | ENSP00000498629.1:p.Tyr967Ter | |
| ENST00000673637.1:c.2901_2902del (MSH6) | ENSP00000501310.1:p.Tyr967Ter | |
| ENST00000234420.9:c.3198_3199del (MSH6) | ENSP00000234420.4:p.Tyr1066Ter | |
| ENST00000405808.5:c.169+4751_169+4752del (FBXO11) | ENSP00000385127.1:n.169+4751_169+4752del | |
| ENST00000434234.5:c.*124+4550_*124+4551del (FBXO11) | ENSP00000402692.1:n.*124+4550_*124+4551del | |
| ENST00000445503.5:c.*2545_*2546del (MSH6) | ENSP00000405294.1:n.*2545_*2546del | |
| ENST00000538136.1:c.2292_2293del (MSH6) | ENSP00000438580.1:p.Tyr764Ter | |
| ENST00000540021.5:c.2808_2809del (MSH6) | ENSP00000446475.1:p.Tyr936Ter | |
| ENST00000614496.4:c.2292_2293del (MSH6) | ENSP00000477844.1:p.Tyr764Ter | |
| ENST00000622629.4:c.102_103del (MSH6) | ENSP00000482078.1:p.Tyr34Ter | |
| NM_000179.2:c.3198_3199del , LRG_219t1:c.3198_3199del (MSH6) | NP_000170.1:p.Tyr1066Ter | |
| NM_001281492.1:c.2808_2809del (MSH6) | NP_001268421.1:p.Tyr936Ter | |
| NM_001281493.1:c.2292_2293del (MSH6) | NP_001268422.1:p.Tyr764Ter | |
| NM_001281494.1:c.2292_2293del (MSH6) | NP_001268423.1:p.Tyr764Ter | |
| XM_005264271.1:c.2901_2902del (MSH6) | XP_005264328.1:p.Tyr967Ter | |
| XM_011532798.1:c.3015_3016del (MSH6) | XP_011531100.1:p.Tyr1005Ter | |
| XM_011532799.1:c.2901_2902del (MSH6) | XP_011531101.1:p.Tyr967Ter | |
| XM_011532800.1:c.2901_2902del (MSH6) | XP_011531102.1:p.Tyr967Ter | |
| XM_024452819.1:c.3198_3199del (MSH6) | XP_024308587.1:p.Tyr1066Ter | |
| XM_024452820.1:c.3015_3016del (MSH6) | XP_024308588.1:p.Tyr1005Ter | |
| XM_024452821.1:c.2901_2902del (MSH6) | XP_024308589.1:p.Tyr967Ter | |
| XM_024452822.1:c.2292_2293del (MSH6) | XP_024308590.1:p.Tyr764Ter | |
| NM_000179.3:c.3198_3199del (MSH6) MANE Select | NP_000170.1:p.Tyr1066Ter | |
| NM_001281492.2:c.2808_2809del (MSH6) | NP_001268421.1:p.Tyr936Ter | |
| NM_001281493.2:c.2292_2293del (MSH6) | NP_001268422.1:p.Tyr764Ter | |
| NM_001281494.2:c.2292_2293del (MSH6) | NP_001268423.1:p.Tyr764Ter |