Linked Data
ClinVar Variation Id:
490010
dbSNP Id:
rs1367615271
gnomAD v3:
2-47806493-GACT-G
gnomAD v4:
2-47806493-GACT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806495_47806497del , CM000664.2:g.47806495_47806497del | GRCh38 |
| NC_000002.11:g.48033634_48033636del , CM000664.1:g.48033634_48033636del | GRCh37 |
| NC_000002.10:g.47887138_47887140del | NCBI36 |
| NG_007111.1:g.28349_28351del , LRG_219:g.28349_28351del | |
| NG_008397.1:g.104180_104182del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3548_3550del (MSH6) | ENSP00000406248.2:p.Thr1183del | |
| ENST00000420813.6:c.3548_3550del (MSH6) | ENSP00000390382.2:p.Thr1183del | |
| ENST00000455383.6:c.3548_3550del (MSH6) | ENSP00000397484.2:p.Thr1183del | |
| ENST00000700004.2:c.3461_3463del (MSH6) | ENSP00000514752.2:p.Thr1154del | |
| ENST00000699999.1:n.4519_4521del (MSH6) | ||
| ENST00000700000.1:c.2279_2281del (MSH6) | ENSP00000514749.1:p.Thr760del | |
| ENST00000700002.1:c.3851_3853del (MSH6) | ENSP00000514750.1:p.Thr1284del | |
| ENST00000700003.1:c.1300_1302del (MSH6) | ENSP00000514751.1:n.1300_1302del | |
| ENST00000700004.1:c.2618_2620del (MSH6) | ENSP00000514752.1:p.Thr873del | |
| ENST00000700005.1:n.2696_2698del (MSH6) | ||
| ENST00000700006.1:n.5003_5005del (MSH6) | ||
| ENST00000700007.1:n.2440_2442del (MSH6) | ||
| ENST00000700008.1:n.2107_2109del (MSH6) | ||
| ENST00000700009.1:n.2509_2511del (MSH6) | ||
| ENST00000700010.1:n.1254_1256del (MSH6) | ||
| ENST00000700011.1:n.3139_3141del (MSH6) | ||
| ENST00000682451.1:n.4252_4254del (FBXO11) | ||
| ENST00000684712.1:n.4514_4516del (FBXO11) | ||
| ENST00000234420.11:c.3845_3847del (MSH6) MANE Select | ENSP00000234420.5:p.Thr1282del | |
| ENST00000540021.6:c.3455_3457del (MSH6) | ENSP00000446475.1:p.Thr1152del | |
| ENST00000652107.1:c.3548_3550del (MSH6) | ENSP00000498629.1:p.Thr1183del | |
| ENST00000673637.1:c.3548_3550del (MSH6) | ENSP00000501310.1:p.Thr1183del | |
| ENST00000234420.9:c.3845_3847del (MSH6) | ENSP00000234420.4:p.Thr1282del | |
| ENST00000405808.5:c.169+1699_169+1701del (FBXO11) | ENSP00000385127.1:n.169+1699_169+1701del | |
| ENST00000434234.5:c.*124+1498_*124+1500del (FBXO11) | ENSP00000402692.1:n.*124+1498_*124+1500del | |
| ENST00000445503.5:c.*3192_*3194del (MSH6) | ENSP00000405294.1:n.*3192_*3194del | |
| ENST00000538136.1:c.2939_2941del (MSH6) | ENSP00000438580.1:p.Thr980del | |
| ENST00000540021.5:c.3455_3457del (MSH6) | ENSP00000446475.1:p.Thr1152del | |
| ENST00000614496.4:c.2939_2941del (MSH6) | ENSP00000477844.1:p.Thr980del | |
| ENST00000622629.4:c.746_748del (MSH6) | ENSP00000482078.1:p.Thr249del | |
| NM_000179.2:c.3845_3847del , LRG_219t1:c.3845_3847del (MSH6) | NP_000170.1:p.Thr1282del | |
| NM_001281492.1:c.3455_3457del (MSH6) | NP_001268421.1:p.Thr1152del | |
| NM_001281493.1:c.2939_2941del (MSH6) | NP_001268422.1:p.Thr980del | |
| NM_001281494.1:c.2939_2941del (MSH6) | NP_001268423.1:p.Thr980del | |
| XM_005264271.1:c.3548_3550del (MSH6) | XP_005264328.1:p.Thr1183del | |
| XM_011532798.1:c.3662_3664del (MSH6) | XP_011531100.1:p.Thr1221del | |
| XM_011532799.1:c.3548_3550del (MSH6) | XP_011531101.1:p.Thr1183del | |
| XM_011532800.1:c.3548_3550del (MSH6) | XP_011531102.1:p.Thr1183del | |
| XM_024452819.1:c.3938_3940del (MSH6) | XP_024308587.1:p.Thr1313del | |
| XM_024452820.1:c.3755_3757del (MSH6) | XP_024308588.1:p.Thr1252del | |
| XM_024452821.1:c.3641_3643del (MSH6) | XP_024308589.1:p.Thr1214del | |
| XM_024452822.1:c.3032_3034del (MSH6) | XP_024308590.1:p.Thr1011del | |
| NM_000179.3:c.3845_3847del (MSH6) MANE Select | NP_000170.1:p.Thr1282del | |
| NM_001281492.2:c.3455_3457del (MSH6) | NP_001268421.1:p.Thr1152del | |
| NM_001281493.2:c.2939_2941del (MSH6) | NP_001268422.1:p.Thr980del | |
| NM_001281494.2:c.2939_2941del (MSH6) | NP_001268423.1:p.Thr980del |