Linked Data
ClinVar Variation Id:
183794
dbSNP Id:
rs786201084
gnomAD v4:
2-47806300-A-AT
PubMed:
PMID:28514183
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806300_47806301insT , CM000664.2:g.47806300_47806301insT | GRCh38 |
| NC_000002.11:g.48033439_48033440insT , CM000664.1:g.48033439_48033440insT | GRCh37 |
| NC_000002.10:g.47886943_47886944insT | NCBI36 |
| NG_007111.1:g.28154_28155insT , LRG_219:g.28154_28155insT | |
| NG_008397.1:g.104375_104376insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3446_3447insT (MSH6) | ENSP00000406248.2:p.Tyr1150LeufsTer26 | |
| ENST00000420813.6:c.3446_3447insT (MSH6) | ENSP00000390382.2:p.Tyr1150LeufsTer26 | |
| ENST00000455383.6:c.3446_3447insT (MSH6) | ENSP00000397484.2:p.Tyr1150LeufsTer26 | |
| ENST00000700004.2:c.3359_3360insT (MSH6) | ENSP00000514752.2:p.Tyr1121LeufsTer26 | |
| ENST00000699999.1:n.4417_4418insT (MSH6) | ||
| ENST00000700000.1:c.2177_2178insT (MSH6) | ENSP00000514749.1:p.Tyr727LeufsTer26 | |
| ENST00000700002.1:c.3749_3750insT (MSH6) | ENSP00000514750.1:p.Tyr1251LeufsTer26 | |
| ENST00000700003.1:c.1198_1199insT (MSH6) | ENSP00000514751.1:n.1198_1199insT | |
| ENST00000700004.1:c.2516_2517insT (MSH6) | ENSP00000514752.1:p.Tyr840LeufsTer26 | |
| ENST00000700005.1:n.2594_2595insT (MSH6) | ||
| ENST00000700006.1:n.4901_4902insT (MSH6) | ||
| ENST00000700007.1:n.2338_2339insT (MSH6) | ||
| ENST00000700008.1:n.1912_1913insT (MSH6) | ||
| ENST00000700009.1:n.2407_2408insT (MSH6) | ||
| ENST00000700010.1:n.1152_1153insT (MSH6) | ||
| ENST00000700011.1:n.3037_3038insT (MSH6) | ||
| ENST00000682451.1:n.4447_4448insA (FBXO11) | ||
| ENST00000684712.1:n.4709_4710insA (FBXO11) | ||
| ENST00000234420.11:c.3743_3744insT (MSH6) MANE Select | ENSP00000234420.5:p.Tyr1249LeufsTer26 | |
| ENST00000540021.6:c.3353_3354insT (MSH6) | ENSP00000446475.1:p.Tyr1119LeufsTer26 | |
| ENST00000652107.1:c.3446_3447insT (MSH6) | ENSP00000498629.1:p.Tyr1150LeufsTer26 | |
| ENST00000673637.1:c.3446_3447insT (MSH6) | ENSP00000501310.1:p.Tyr1150LeufsTer26 | |
| ENST00000234420.9:c.3743_3744insT (MSH6) | ENSP00000234420.4:p.Tyr1249LeufsTer26 | |
| ENST00000405808.5:c.169+1894_169+1895insA (FBXO11) | ENSP00000385127.1:n.169+1894_169+1895insA | |
| ENST00000434234.5:c.*124+1693_*124+1694insA (FBXO11) | ENSP00000402692.1:n.*124+1693_*124+1694insA | |
| ENST00000445503.5:c.*3090_*3091insT (MSH6) | ENSP00000405294.1:n.*3090_*3091insT | |
| ENST00000538136.1:c.2837_2838insT (MSH6) | ENSP00000438580.1:p.Tyr947LeufsTer26 | |
| ENST00000540021.5:c.3353_3354insT (MSH6) | ENSP00000446475.1:p.Tyr1119LeufsTer26 | |
| ENST00000614496.4:c.2837_2838insT (MSH6) | ENSP00000477844.1:p.Tyr947LeufsTer26 | |
| ENST00000622629.4:c.647_648insT (MSH6) | ENSP00000482078.1:p.Tyr217LeufsTer4 | |
| NM_000179.2:c.3743_3744insT , LRG_219t1:c.3743_3744insT (MSH6) | NP_000170.1:p.Tyr1249LeufsTer26 | |
| NM_001281492.1:c.3353_3354insT (MSH6) | NP_001268421.1:p.Tyr1119LeufsTer26 | |
| NM_001281493.1:c.2837_2838insT (MSH6) | NP_001268422.1:p.Tyr947LeufsTer26 | |
| NM_001281494.1:c.2837_2838insT (MSH6) | NP_001268423.1:p.Tyr947LeufsTer26 | |
| XM_005264271.1:c.3446_3447insT (MSH6) | XP_005264328.1:p.Tyr1150LeufsTer26 | |
| XM_011532798.1:c.3560_3561insT (MSH6) | XP_011531100.1:p.Tyr1188LeufsTer26 | |
| XM_011532799.1:c.3446_3447insT (MSH6) | XP_011531101.1:p.Tyr1150LeufsTer26 | |
| XM_011532800.1:c.3446_3447insT (MSH6) | XP_011531102.1:p.Tyr1150LeufsTer26 | |
| XM_024452819.1:c.3743_3744insT (MSH6) | XP_024308587.1:p.Tyr1249LeufsTer? | |
| XM_024452820.1:c.3560_3561insT (MSH6) | XP_024308588.1:p.Tyr1188LeufsTer? | |
| XM_024452821.1:c.3446_3447insT (MSH6) | XP_024308589.1:p.Tyr1150LeufsTer? | |
| XM_024452822.1:c.2837_2838insT (MSH6) | XP_024308590.1:p.Tyr947LeufsTer? | |
| NM_000179.3:c.3743_3744insT (MSH6) MANE Select | NP_000170.1:p.Tyr1249LeufsTer26 | |
| NM_001281492.2:c.3353_3354insT (MSH6) | NP_001268421.1:p.Tyr1119LeufsTer26 | |
| NM_001281493.2:c.2837_2838insT (MSH6) | NP_001268422.1:p.Tyr947LeufsTer26 | |
| NM_001281494.2:c.2837_2838insT (MSH6) | NP_001268423.1:p.Tyr947LeufsTer26 |