ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47799789_47799792del , CM000664.2:g.47799789_47799792del | GRCh38 |
| NC_000002.11:g.48026928_48026931del , CM000664.1:g.48026928_48026931del | GRCh37 |
| NC_000002.10:g.47880432_47880435del | NCBI36 |
| NG_007111.1:g.21643_21646del , LRG_219:g.21643_21646del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.1509_1512del (MSH6) | ENSP00000406248.2:p.Glu505LeufsTer5 | |
| ENST00000420813.6:c.1509_1512del (MSH6) | ENSP00000390382.2:p.Glu505LeufsTer5 | |
| ENST00000455383.6:c.1509_1512del (MSH6) | ENSP00000397484.2:p.Glu505LeufsTer5 | |
| ENST00000700004.2:c.1806_1809del (MSH6) | ENSP00000514752.2:p.Glu604LeufsTer5 | |
| ENST00000699999.1:n.1890_1893del (MSH6) | ||
| ENST00000700000.1:c.1606+200_1606+203del (MSH6) | ENSP00000514749.1:n.1606+200_1606+203del | |
| ENST00000700002.1:c.1812_1815del (MSH6) | ENSP00000514750.1:p.Glu606LeufsTer5 | |
| ENST00000700003.1:c.628-3631_628-3628del (MSH6) | ENSP00000514751.1:n.628-3631_628-3628del | |
| ENST00000700004.1:c.963_966del (MSH6) | ENSP00000514752.1:p.Glu323LeufsTer5 | |
| ENST00000234420.11:c.1806_1809del (MSH6) MANE Select | ENSP00000234420.5:p.Glu604LeufsTer5 | |
| ENST00000540021.6:c.1416_1419del (MSH6) | ENSP00000446475.1:p.Glu474LeufsTer5 | |
| ENST00000652107.1:c.1509_1512del (MSH6) | ENSP00000498629.1:p.Glu505LeufsTer5 | |
| ENST00000673637.1:c.1509_1512del (MSH6) | ENSP00000501310.1:p.Glu505LeufsTer5 | |
| ENST00000234420.9:c.1806_1809del (MSH6) | ENSP00000234420.4:p.Glu604LeufsTer5 | |
| ENST00000405808.5:c.169+8403_169+8406del (FBXO11) | ENSP00000385127.1:n.169+8403_169+8406del | |
| ENST00000434234.5:c.*124+8202_*124+8205del (FBXO11) | ENSP00000402692.1:n.*124+8202_*124+8205del | |
| ENST00000445503.5:c.*1153_*1156del (MSH6) | ENSP00000405294.1:n.*1153_*1156del | |
| ENST00000538136.1:c.900_903del (MSH6) | ENSP00000438580.1:p.Glu302LeufsTer5 | |
| ENST00000540021.5:c.1416_1419del (MSH6) | ENSP00000446475.1:p.Glu474LeufsTer5 | |
| ENST00000614496.4:c.900_903del (MSH6) | ENSP00000477844.1:p.Glu302LeufsTer5 | |
| ENST00000616033.4:c.1803_1806del (MSH6) | ENSP00000480261.1:p.Glu603LeufsTer5 | |
| ENST00000622629.4:c.-1291_-1288del (MSH6) | ENSP00000482078.1:n.-1291_-1288del | |
| NM_000179.2:c.1806_1809del , LRG_219t1:c.1806_1809del (MSH6) | NP_000170.1:p.Glu604LeufsTer5 | |
| NM_001281492.1:c.1416_1419del (MSH6) | NP_001268421.1:p.Glu474LeufsTer5 | |
| NM_001281493.1:c.900_903del (MSH6) | NP_001268422.1:p.Glu302LeufsTer5 | |
| NM_001281494.1:c.900_903del (MSH6) | NP_001268423.1:p.Glu302LeufsTer5 | |
| XM_005264271.1:c.1509_1512del (MSH6) | XP_005264328.1:p.Glu505LeufsTer5 | |
| XM_011532798.1:c.1623_1626del (MSH6) | XP_011531100.1:p.Glu543LeufsTer5 | |
| XM_011532799.1:c.1509_1512del (MSH6) | XP_011531101.1:p.Glu505LeufsTer5 | |
| XM_011532800.1:c.1509_1512del (MSH6) | XP_011531102.1:p.Glu505LeufsTer5 | |
| XM_024452819.1:c.1806_1809del (MSH6) | XP_024308587.1:p.Glu604LeufsTer5 | |
| XM_024452820.1:c.1623_1626del (MSH6) | XP_024308588.1:p.Glu543LeufsTer5 | |
| XM_024452821.1:c.1509_1512del (MSH6) | XP_024308589.1:p.Glu505LeufsTer5 | |
| XM_024452822.1:c.900_903del (MSH6) | XP_024308590.1:p.Glu302LeufsTer5 | |
| NM_000179.3:c.1806_1809del (MSH6) MANE Select | NP_000170.1:p.Glu604LeufsTer5 | |
| NM_001281492.2:c.1416_1419del (MSH6) | NP_001268421.1:p.Glu474LeufsTer5 | |
| NM_001281493.2:c.900_903del (MSH6) | NP_001268422.1:p.Glu302LeufsTer5 | |
| NM_001281494.2:c.900_903del (MSH6) | NP_001268423.1:p.Glu302LeufsTer5 |