Linked Data
ClinVar Variation Id:
89481
dbSNP Id:
rs587779295
gnomAD v2:
2-48033707-T-TAATCTCCC
gnomAD v3:
2-47806568-T-TAATCTCCC
gnomAD v4:
2-47806568-T-TAATCTCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806570_47806577dup , CM000664.2:g.47806570_47806577dup | GRCh38 |
| NC_000002.11:g.48033709_48033716dup , CM000664.1:g.48033709_48033716dup | GRCh37 |
| NC_000002.10:g.47887213_47887220dup | NCBI36 |
| NG_007111.1:g.28424_28431dup , LRG_219:g.28424_28431dup | |
| NG_008397.1:g.104100_104107dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3623_3630dup (MSH6) | ENSP00000406248.2:p.Glu1211IlefsTer20 | |
| ENST00000420813.6:c.3623_3630dup (MSH6) | ENSP00000390382.2:p.Glu1211IlefsTer20 | |
| ENST00000455383.6:c.3623_3630dup (MSH6) | ENSP00000397484.2:p.Glu1211IlefsTer20 | |
| ENST00000700004.2:c.3536_3543dup (MSH6) | ENSP00000514752.2:p.Glu1182IlefsTer20 | |
| ENST00000699999.1:n.4594_4601dup (MSH6) | ||
| ENST00000700000.1:c.2354_2361dup (MSH6) | ENSP00000514749.1:p.Glu788IlefsTer20 | |
| ENST00000700002.1:c.3926_3933dup (MSH6) | ENSP00000514750.1:p.Glu1312IlefsTer20 | |
| ENST00000700003.1:c.1375_1382dup (MSH6) | ENSP00000514751.1:n.1375_1382dup | |
| ENST00000700004.1:c.2693_2700dup (MSH6) | ENSP00000514752.1:p.Glu901IlefsTer20 | |
| ENST00000700005.1:n.2771_2778dup (MSH6) | ||
| ENST00000700006.1:n.5078_5085dup (MSH6) | ||
| ENST00000700007.1:n.2515_2522dup (MSH6) | ||
| ENST00000700008.1:n.2182_2189dup (MSH6) | ||
| ENST00000700009.1:n.2584_2591dup (MSH6) | ||
| ENST00000700010.1:n.1329_1336dup (MSH6) | ||
| ENST00000700011.1:n.3214_3221dup (MSH6) | ||
| ENST00000682451.1:n.4172_4179dup (FBXO11) | ||
| ENST00000684712.1:n.4434_4441dup (FBXO11) | ||
| ENST00000234420.11:c.3920_3927dup (MSH6) MANE Select | ENSP00000234420.5:p.Glu1310IlefsTer20 | |
| ENST00000540021.6:c.3530_3537dup (MSH6) | ENSP00000446475.1:p.Glu1180IlefsTer20 | |
| ENST00000652107.1:c.3623_3630dup (MSH6) | ENSP00000498629.1:p.Glu1211IlefsTer20 | |
| ENST00000673637.1:c.3623_3630dup (MSH6) | ENSP00000501310.1:p.Glu1211IlefsTer20 | |
| ENST00000234420.9:c.3920_3927dup (MSH6) | ENSP00000234420.4:p.Glu1310IlefsTer20 | |
| ENST00000405808.5:c.169+1619_169+1626dup (FBXO11) | ENSP00000385127.1:n.169+1619_169+1626dup | |
| ENST00000434234.5:c.*124+1418_*124+1425dup (FBXO11) | ENSP00000402692.1:n.*124+1418_*124+1425dup | |
| ENST00000445503.5:c.*3267_*3274dup (MSH6) | ENSP00000405294.1:n.*3267_*3274dup | |
| ENST00000538136.1:c.3014_3021dup (MSH6) | ENSP00000438580.1:p.Glu1008IlefsTer20 | |
| ENST00000540021.5:c.3530_3537dup (MSH6) | ENSP00000446475.1:p.Glu1180IlefsTer20 | |
| ENST00000614496.4:c.3014_3021dup (MSH6) | ENSP00000477844.1:p.Glu1008IlefsTer20 | |
| ENST00000622629.4:c.821_828dup (MSH6) | ENSP00000482078.1:p.Glu277IlefsTer20 | |
| NM_000179.2:c.3920_3927dup , LRG_219t1:c.3920_3927dup (MSH6) | NP_000170.1:p.Glu1310IlefsTer20 | |
| NM_001281492.1:c.3530_3537dup (MSH6) | NP_001268421.1:p.Glu1180IlefsTer20 | |
| NM_001281493.1:c.3014_3021dup (MSH6) | NP_001268422.1:p.Glu1008IlefsTer20 | |
| NM_001281494.1:c.3014_3021dup (MSH6) | NP_001268423.1:p.Glu1008IlefsTer20 | |
| XM_005264271.1:c.3623_3630dup (MSH6) | XP_005264328.1:p.Glu1211IlefsTer20 | |
| XM_011532798.1:c.3737_3744dup (MSH6) | XP_011531100.1:p.Glu1249IlefsTer20 | |
| XM_011532799.1:c.3623_3630dup (MSH6) | XP_011531101.1:p.Glu1211IlefsTer20 | |
| XM_011532800.1:c.3623_3630dup (MSH6) | XP_011531102.1:p.Glu1211IlefsTer20 | |
| XM_024452819.1:c.4013_4020dup (MSH6) | XP_024308587.1:p.Glu1341IlefsTer20 | |
| XM_024452820.1:c.3830_3837dup (MSH6) | XP_024308588.1:p.Glu1280IlefsTer20 | |
| XM_024452821.1:c.3716_3723dup (MSH6) | XP_024308589.1:p.Glu1242IlefsTer20 | |
| XM_024452822.1:c.3107_3114dup (MSH6) | XP_024308590.1:p.Glu1039IlefsTer20 | |
| NM_000179.3:c.3920_3927dup (MSH6) MANE Select | NP_000170.1:p.Glu1310IlefsTer20 | |
| NM_001281492.2:c.3530_3537dup (MSH6) | NP_001268421.1:p.Glu1180IlefsTer20 | |
| NM_001281493.2:c.3014_3021dup (MSH6) | NP_001268422.1:p.Glu1008IlefsTer20 | |
| NM_001281494.2:c.3014_3021dup (MSH6) | NP_001268423.1:p.Glu1008IlefsTer20 |