Linked Data
ClinVar Variation Id:
1476185
ClinVar RCV Id:
RCV002008057
dbSNP Id:
rs2104544843
gnomAD v4:
2-47806320-GATT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806324_47806326del , CM000664.2:g.47806324_47806326del | GRCh38 |
| NC_000002.11:g.48033463_48033465del , CM000664.1:g.48033463_48033465del | GRCh37 |
| NC_000002.10:g.47886967_47886969del | NCBI36 |
| NG_007111.1:g.28178_28180del , LRG_219:g.28178_28180del | |
| NG_008397.1:g.104353_104355del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3470_3472del (MSH6) | ENSP00000406248.2:p.Tyr1157del | |
| ENST00000420813.6:c.3470_3472del (MSH6) | ENSP00000390382.2:p.Tyr1157del | |
| ENST00000455383.6:c.3470_3472del (MSH6) | ENSP00000397484.2:p.Tyr1157del | |
| ENST00000700004.2:c.3383_3385del (MSH6) | ENSP00000514752.2:p.Tyr1128del | |
| ENST00000699999.1:n.4441_4443del (MSH6) | ||
| ENST00000700000.1:c.2201_2203del (MSH6) | ENSP00000514749.1:p.Tyr734del | |
| ENST00000700002.1:c.3773_3775del (MSH6) | ENSP00000514750.1:p.Tyr1258del | |
| ENST00000700003.1:c.1222_1224del (MSH6) | ENSP00000514751.1:n.1222_1224del | |
| ENST00000700004.1:c.2540_2542del (MSH6) | ENSP00000514752.1:p.Tyr847del | |
| ENST00000700005.1:n.2618_2620del (MSH6) | ||
| ENST00000700006.1:n.4925_4927del (MSH6) | ||
| ENST00000700007.1:n.2362_2364del (MSH6) | ||
| ENST00000700008.1:n.1936_1938del (MSH6) | ||
| ENST00000700009.1:n.2431_2433del (MSH6) | ||
| ENST00000700010.1:n.1176_1178del (MSH6) | ||
| ENST00000700011.1:n.3061_3063del (MSH6) | ||
| ENST00000682451.1:n.4425_4427del (FBXO11) | ||
| ENST00000684712.1:n.4687_4689del (FBXO11) | ||
| ENST00000234420.11:c.3767_3769del (MSH6) MANE Select | ENSP00000234420.5:p.Tyr1256del | |
| ENST00000540021.6:c.3377_3379del (MSH6) | ENSP00000446475.1:p.Tyr1126del | |
| ENST00000652107.1:c.3470_3472del (MSH6) | ENSP00000498629.1:p.Tyr1157del | |
| ENST00000673637.1:c.3470_3472del (MSH6) | ENSP00000501310.1:p.Tyr1157del | |
| ENST00000234420.9:c.3767_3769del (MSH6) | ENSP00000234420.4:p.Tyr1256del | |
| ENST00000405808.5:c.169+1872_169+1874del (FBXO11) | ENSP00000385127.1:n.169+1872_169+1874del | |
| ENST00000434234.5:c.*124+1671_*124+1673del (FBXO11) | ENSP00000402692.1:n.*124+1671_*124+1673del | |
| ENST00000445503.5:c.*3114_*3116del (MSH6) | ENSP00000405294.1:n.*3114_*3116del | |
| ENST00000538136.1:c.2861_2863del (MSH6) | ENSP00000438580.1:p.Tyr954del | |
| ENST00000540021.5:c.3377_3379del (MSH6) | ENSP00000446475.1:p.Tyr1126del | |
| ENST00000614496.4:c.2861_2863del (MSH6) | ENSP00000477844.1:p.Tyr954del | |
| ENST00000622629.4:c.669_671del (MSH6) | ENSP00000482078.1:p.Leu223del | |
| NM_000179.2:c.3767_3769del , LRG_219t1:c.3767_3769del (MSH6) | NP_000170.1:p.Tyr1256del | |
| NM_001281492.1:c.3377_3379del (MSH6) | NP_001268421.1:p.Tyr1126del | |
| NM_001281493.1:c.2861_2863del (MSH6) | NP_001268422.1:p.Tyr954del | |
| NM_001281494.1:c.2861_2863del (MSH6) | NP_001268423.1:p.Tyr954del | |
| XM_005264271.1:c.3470_3472del (MSH6) | XP_005264328.1:p.Tyr1157del | |
| XM_011532798.1:c.3584_3586del (MSH6) | XP_011531100.1:p.Tyr1195del | |
| XM_011532799.1:c.3470_3472del (MSH6) | XP_011531101.1:p.Tyr1157del | |
| XM_011532800.1:c.3470_3472del (MSH6) | XP_011531102.1:p.Tyr1157del | |
| XM_024452819.1:c.3767_3769del (MSH6) | XP_024308587.1:p.Tyr1256del | |
| XM_024452820.1:c.3584_3586del (MSH6) | XP_024308588.1:p.Tyr1195del | |
| XM_024452821.1:c.3470_3472del (MSH6) | XP_024308589.1:p.Tyr1157del | |
| XM_024452822.1:c.2861_2863del (MSH6) | XP_024308590.1:p.Tyr954del | |
| NM_000179.3:c.3767_3769del (MSH6) MANE Select | NP_000170.1:p.Tyr1256del | |
| NM_001281492.2:c.3377_3379del (MSH6) | NP_001268421.1:p.Tyr1126del | |
| NM_001281493.2:c.2861_2863del (MSH6) | NP_001268422.1:p.Tyr954del | |
| NM_001281494.2:c.2861_2863del (MSH6) | NP_001268423.1:p.Tyr954del |