Linked Data
ClinVar Variation Id:
234794
dbSNP Id:
rs876661222
ExAC:
2:48033448 C / CATTA
gnomAD v2:
2-48033448-C-CATTA
gnomAD v4:
2-47806309-C-CATTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806310_47806313dup , CM000664.2:g.47806310_47806313dup | GRCh38 |
| NC_000002.11:g.48033449_48033452dup , CM000664.1:g.48033449_48033452dup | GRCh37 |
| NC_000002.10:g.47886953_47886956dup | NCBI36 |
| NG_007111.1:g.28164_28167dup , LRG_219:g.28164_28167dup | |
| NG_008397.1:g.104363_104366dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3456_3459dup (MSH6) | ENSP00000406248.2:p.Val1154IlefsTer23 | |
| ENST00000420813.6:c.3456_3459dup (MSH6) | ENSP00000390382.2:p.Val1154IlefsTer23 | |
| ENST00000455383.6:c.3456_3459dup (MSH6) | ENSP00000397484.2:p.Val1154IlefsTer23 | |
| ENST00000700004.2:c.3369_3372dup (MSH6) | ENSP00000514752.2:p.Val1125IlefsTer23 | |
| ENST00000699999.1:n.4427_4430dup (MSH6) | ||
| ENST00000700000.1:c.2187_2190dup (MSH6) | ENSP00000514749.1:p.Val731IlefsTer23 | |
| ENST00000700002.1:c.3759_3762dup (MSH6) | ENSP00000514750.1:p.Val1255IlefsTer23 | |
| ENST00000700003.1:c.1208_1211dup (MSH6) | ENSP00000514751.1:n.1208_1211dup | |
| ENST00000700004.1:c.2526_2529dup (MSH6) | ENSP00000514752.1:p.Val844IlefsTer23 | |
| ENST00000700005.1:n.2604_2607dup (MSH6) | ||
| ENST00000700006.1:n.4911_4914dup (MSH6) | ||
| ENST00000700007.1:n.2348_2351dup (MSH6) | ||
| ENST00000700008.1:n.1922_1925dup (MSH6) | ||
| ENST00000700009.1:n.2417_2420dup (MSH6) | ||
| ENST00000700010.1:n.1162_1165dup (MSH6) | ||
| ENST00000700011.1:n.3047_3050dup (MSH6) | ||
| ENST00000682451.1:n.4435_4438dup (FBXO11) | ||
| ENST00000684712.1:n.4697_4700dup (FBXO11) | ||
| ENST00000234420.11:c.3753_3756dup (MSH6) MANE Select | ENSP00000234420.5:p.Val1253IlefsTer23 | |
| ENST00000540021.6:c.3363_3366dup (MSH6) | ENSP00000446475.1:p.Val1123IlefsTer23 | |
| ENST00000652107.1:c.3456_3459dup (MSH6) | ENSP00000498629.1:p.Val1154IlefsTer23 | |
| ENST00000673637.1:c.3456_3459dup (MSH6) | ENSP00000501310.1:p.Val1154IlefsTer23 | |
| ENST00000234420.9:c.3753_3756dup (MSH6) | ENSP00000234420.4:p.Val1253IlefsTer23 | |
| ENST00000405808.5:c.169+1882_169+1885dup (FBXO11) | ENSP00000385127.1:n.169+1882_169+1885dup | |
| ENST00000434234.5:c.*124+1681_*124+1684dup (FBXO11) | ENSP00000402692.1:n.*124+1681_*124+1684du... | |
| ENST00000445503.5:c.*3100_*3103dup (MSH6) | ENSP00000405294.1:n.*3100_*3103dup | |
| ENST00000538136.1:c.2847_2850dup (MSH6) | ENSP00000438580.1:p.Val951IlefsTer23 | |
| ENST00000540021.5:c.3363_3366dup (MSH6) | ENSP00000446475.1:p.Val1123IlefsTer23 | |
| ENST00000614496.4:c.2847_2850dup (MSH6) | ENSP00000477844.1:p.Val951IlefsTer23 | |
| ENST00000622629.4:c.655_658dup (MSH6) | ENSP00000482078.1:p.Ser220AsnfsTer2 | |
| NM_000179.2:c.3753_3756dup , LRG_219t1:c.3753_3756dup (MSH6) | NP_000170.1:p.Val1253IlefsTer23 | |
| NM_001281492.1:c.3363_3366dup (MSH6) | NP_001268421.1:p.Val1123IlefsTer23 | |
| NM_001281493.1:c.2847_2850dup (MSH6) | NP_001268422.1:p.Val951IlefsTer23 | |
| NM_001281494.1:c.2847_2850dup (MSH6) | NP_001268423.1:p.Val951IlefsTer23 | |
| XM_005264271.1:c.3456_3459dup (MSH6) | XP_005264328.1:p.Val1154IlefsTer23 | |
| XM_011532798.1:c.3570_3573dup (MSH6) | XP_011531100.1:p.Val1192IlefsTer23 | |
| XM_011532799.1:c.3456_3459dup (MSH6) | XP_011531101.1:p.Val1154IlefsTer23 | |
| XM_011532800.1:c.3456_3459dup (MSH6) | XP_011531102.1:p.Val1154IlefsTer23 | |
| XM_024452819.1:c.3753_3756dup (MSH6) | XP_024308587.1:p.Val1253IlefsTer30 | |
| XM_024452820.1:c.3570_3573dup (MSH6) | XP_024308588.1:p.Val1192IlefsTer30 | |
| XM_024452821.1:c.3456_3459dup (MSH6) | XP_024308589.1:p.Val1154IlefsTer30 | |
| XM_024452822.1:c.2847_2850dup (MSH6) | XP_024308590.1:p.Val951IlefsTer30 | |
| NM_000179.3:c.3753_3756dup (MSH6) MANE Select | NP_000170.1:p.Val1253IlefsTer23 | |
| NM_001281492.2:c.3363_3366dup (MSH6) | NP_001268421.1:p.Val1123IlefsTer23 | |
| NM_001281493.2:c.2847_2850dup (MSH6) | NP_001268422.1:p.Val951IlefsTer23 | |
| NM_001281494.2:c.2847_2850dup (MSH6) | NP_001268423.1:p.Val951IlefsTer23 |