Linked Data
ClinVar Variation Id:
233651
dbSNP Id:
rs876660549
gnomAD v4:
2-47799116-GAA-G
PubMed:
PMID:21868491
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47799117_47799118del , CM000664.2:g.47799117_47799118del | GRCh38 |
| NC_000002.11:g.48026256_48026257del , CM000664.1:g.48026256_48026257del | GRCh37 |
| NC_000002.10:g.47879760_47879761del | NCBI36 |
| NG_007111.1:g.20971_20972del , LRG_219:g.20971_20972del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.837_838del (MSH6) | ENSP00000406248.2:p.Asp281Ter | |
| ENST00000420813.6:c.837_838del (MSH6) | ENSP00000390382.2:p.Asp281Ter | |
| ENST00000455383.6:c.837_838del (MSH6) | ENSP00000397484.2:p.Asp281Ter | |
| ENST00000700004.2:c.1134_1135del (MSH6) | ENSP00000514752.2:p.Asp380Ter | |
| ENST00000699999.1:n.1218_1219del (MSH6) | ||
| ENST00000700000.1:c.1134_1135del (MSH6) | ENSP00000514749.1:p.Asp380Ter | |
| ENST00000700002.1:c.1140_1141del (MSH6) | ENSP00000514750.1:p.Asp382Ter | |
| ENST00000700003.1:c.627+3054_627+3055del (MSH6) | ENSP00000514751.1:n.627+3054_627+3055del | |
| ENST00000700004.1:c.291_292del (MSH6) | ENSP00000514752.1:p.Asp99Ter | |
| ENST00000234420.11:c.1134_1135del (MSH6) MANE Select | ENSP00000234420.5:p.Asp380Ter | |
| ENST00000540021.6:c.744_745del (MSH6) | ENSP00000446475.1:p.Asp250Ter | |
| ENST00000652107.1:c.837_838del (MSH6) | ENSP00000498629.1:p.Asp281Ter | |
| ENST00000673637.1:c.837_838del (MSH6) | ENSP00000501310.1:p.Asp281Ter | |
| ENST00000234420.9:c.1134_1135del (MSH6) | ENSP00000234420.4:p.Asp380Ter | |
| ENST00000405808.5:c.169+9077_169+9078del (FBXO11) | ENSP00000385127.1:n.169+9077_169+9078del | |
| ENST00000434234.5:c.*124+8876_*124+8877del (FBXO11) | ENSP00000402692.1:n.*124+8876_*124+8877de... | |
| ENST00000445503.5:c.*481_*482del (MSH6) | ENSP00000405294.1:n.*481_*482del | |
| ENST00000538136.1:c.228_229del (MSH6) | ENSP00000438580.1:p.Asp78Ter | |
| ENST00000540021.5:c.744_745del (MSH6) | ENSP00000446475.1:p.Asp250Ter | |
| ENST00000614496.4:c.228_229del (MSH6) | ENSP00000477844.1:p.Asp78Ter | |
| ENST00000616033.4:c.1131_1132del (MSH6) | ENSP00000480261.1:p.Asp379Ter | |
| ENST00000622629.4:c.-1963_-1962del (MSH6) | ENSP00000482078.1:n.-1963_-1962del | |
| NM_000179.2:c.1134_1135del , LRG_219t1:c.1134_1135del (MSH6) | NP_000170.1:p.Asp380Ter | |
| NM_001281492.1:c.744_745del (MSH6) | NP_001268421.1:p.Asp250Ter | |
| NM_001281493.1:c.228_229del (MSH6) | NP_001268422.1:p.Asp78Ter | |
| NM_001281494.1:c.228_229del (MSH6) | NP_001268423.1:p.Asp78Ter | |
| XM_005264271.1:c.837_838del (MSH6) | XP_005264328.1:p.Asp281Ter | |
| XM_011532798.1:c.951_952del (MSH6) | XP_011531100.1:p.Asp319Ter | |
| XM_011532799.1:c.837_838del (MSH6) | XP_011531101.1:p.Asp281Ter | |
| XM_011532800.1:c.837_838del (MSH6) | XP_011531102.1:p.Asp281Ter | |
| XM_024452819.1:c.1134_1135del (MSH6) | XP_024308587.1:p.Asp380Ter | |
| XM_024452820.1:c.951_952del (MSH6) | XP_024308588.1:p.Asp319Ter | |
| XM_024452821.1:c.837_838del (MSH6) | XP_024308589.1:p.Asp281Ter | |
| XM_024452822.1:c.228_229del (MSH6) | XP_024308590.1:p.Asp78Ter | |
| NM_000179.3:c.1134_1135del (MSH6) MANE Select | NP_000170.1:p.Asp380Ter | |
| NM_001281492.2:c.744_745del (MSH6) | NP_001268421.1:p.Asp250Ter | |
| NM_001281493.2:c.228_229del (MSH6) | NP_001268422.1:p.Asp78Ter | |
| NM_001281494.2:c.228_229del (MSH6) | NP_001268423.1:p.Asp78Ter |