Linked Data
ClinVar Variation Id:
823930
dbSNP Id:
rs891318615
MyVariant Identifiers:
chr2:g.48032759_48032760insAAAGT (hg19)
chr2:g.47805620_47805621insAAAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47805622_47805626dup , CM000664.2:g.47805622_47805626dup | GRCh38 |
| NC_000002.11:g.48032761_48032765dup , CM000664.1:g.48032761_48032765dup | GRCh37 |
| NC_000002.10:g.47886265_47886269dup | NCBI36 |
| NG_007111.1:g.27476_27480dup , LRG_219:g.27476_27480dup | |
| NG_008397.1:g.105051_105055dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3264_3268dup (MSH6) | ENSP00000406248.2:p.Thr1090LysfsTer8 | |
| ENST00000420813.6:c.3264_3268dup (MSH6) | ENSP00000390382.2:p.Thr1090LysfsTer8 | |
| ENST00000455383.6:c.3264_3268dup (MSH6) | ENSP00000397484.2:p.Thr1090LysfsTer8 | |
| ENST00000700004.2:c.3177_3181dup (MSH6) | ENSP00000514752.2:p.Thr1061LysfsTer8 | |
| ENST00000699999.1:n.4235_4239dup (MSH6) | ||
| ENST00000700000.1:c.1995_1999dup (MSH6) | ENSP00000514749.1:p.Thr667LysfsTer8 | |
| ENST00000700002.1:c.3567_3571dup (MSH6) | ENSP00000514750.1:p.Thr1191LysfsTer8 | |
| ENST00000700003.1:c.1016_1020dup (MSH6) | ENSP00000514751.1:n.1016_1020dup | |
| ENST00000700004.1:c.2334_2338dup (MSH6) | ENSP00000514752.1:p.Thr780LysfsTer8 | |
| ENST00000700005.1:n.2412_2416dup (MSH6) | ||
| ENST00000700006.1:n.4223_4227dup (MSH6) | ||
| ENST00000700007.1:n.2156_2160dup (MSH6) | ||
| ENST00000700008.1:n.1730_1734dup (MSH6) | ||
| ENST00000700009.1:n.1729_1733dup (MSH6) | ||
| ENST00000700010.1:n.970_974dup (MSH6) | ||
| ENST00000700011.1:n.2855_2859dup (MSH6) | ||
| ENST00000234420.11:c.3561_3565dup (MSH6) MANE Select | ENSP00000234420.5:p.Thr1189LysfsTer8 | |
| ENST00000540021.6:c.3171_3175dup (MSH6) | ENSP00000446475.1:p.Thr1059LysfsTer8 | |
| ENST00000652107.1:c.3264_3268dup (MSH6) | ENSP00000498629.1:p.Thr1090LysfsTer8 | |
| ENST00000673637.1:c.3264_3268dup (MSH6) | ENSP00000501310.1:p.Thr1090LysfsTer8 | |
| ENST00000234420.9:c.3561_3565dup (MSH6) | ENSP00000234420.4:p.Thr1189LysfsTer8 | |
| ENST00000405808.5:c.169+2570_169+2574dup (FBXO11) | ENSP00000385127.1:n.169+2570_169+2574dup | |
| ENST00000434234.5:c.*124+2369_*124+2373dup (FBXO11) | ENSP00000402692.1:n.*124+2369_*124+2373dup | |
| ENST00000445503.5:c.*2908_*2912dup (MSH6) | ENSP00000405294.1:n.*2908_*2912dup | |
| ENST00000538136.1:c.2655_2659dup (MSH6) | ENSP00000438580.1:p.Thr887LysfsTer8 | |
| ENST00000540021.5:c.3171_3175dup (MSH6) | ENSP00000446475.1:p.Thr1059LysfsTer8 | |
| ENST00000614496.4:c.2655_2659dup (MSH6) | ENSP00000477844.1:p.Thr887LysfsTer8 | |
| ENST00000622629.4:c.465_469dup (MSH6) | ENSP00000482078.1:p.Thr157LysfsTer8 | |
| NM_000179.2:c.3561_3565dup , LRG_219t1:c.3561_3565dup (MSH6) | NP_000170.1:p.Thr1189LysfsTer8 | |
| NM_001281492.1:c.3171_3175dup (MSH6) | NP_001268421.1:p.Thr1059LysfsTer8 | |
| NM_001281493.1:c.2655_2659dup (MSH6) | NP_001268422.1:p.Thr887LysfsTer8 | |
| NM_001281494.1:c.2655_2659dup (MSH6) | NP_001268423.1:p.Thr887LysfsTer8 | |
| XM_005264271.1:c.3264_3268dup (MSH6) | XP_005264328.1:p.Thr1090LysfsTer8 | |
| XM_011532798.1:c.3378_3382dup (MSH6) | XP_011531100.1:p.Thr1128LysfsTer8 | |
| XM_011532799.1:c.3264_3268dup (MSH6) | XP_011531101.1:p.Thr1090LysfsTer8 | |
| XM_011532800.1:c.3264_3268dup (MSH6) | XP_011531102.1:p.Thr1090LysfsTer8 | |
| XM_024452819.1:c.3561_3565dup (MSH6) | XP_024308587.1:p.Thr1189LysfsTer8 | |
| XM_024452820.1:c.3378_3382dup (MSH6) | XP_024308588.1:p.Thr1128LysfsTer8 | |
| XM_024452821.1:c.3264_3268dup (MSH6) | XP_024308589.1:p.Thr1090LysfsTer8 | |
| XM_024452822.1:c.2655_2659dup (MSH6) | XP_024308590.1:p.Thr887LysfsTer8 | |
| NM_000179.3:c.3561_3565dup (MSH6) MANE Select | NP_000170.1:p.Thr1189LysfsTer8 | |
| NM_001281492.2:c.3171_3175dup (MSH6) | NP_001268421.1:p.Thr1059LysfsTer8 | |
| NM_001281493.2:c.2655_2659dup (MSH6) | NP_001268422.1:p.Thr887LysfsTer8 | |
| NM_001281494.2:c.2655_2659dup (MSH6) | NP_001268423.1:p.Thr887LysfsTer8 |