Linked Data
ClinVar Variation Id:
89379
ClinVar RCV Id:
RCV000009496
dbSNP Id:
rs587776705
PubMed:
PMID:15340263
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47803633_47803635del , CM000664.2:g.47803633_47803635del | GRCh38 |
| NC_000002.11:g.48030772_48030774del , CM000664.1:g.48030772_48030774del | GRCh37 |
| NC_000002.10:g.47884276_47884278del | NCBI36 |
| NG_007111.1:g.25487_25489del , LRG_219:g.25487_25489del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3089_3091del (MSH6) | ENSP00000406248.2:p.Cys1030_Val1031delins... | |
| ENST00000420813.6:c.3089_3091del (MSH6) | ENSP00000390382.2:p.Cys1030_Val1031delins... | |
| ENST00000455383.6:c.3089_3091del (MSH6) | ENSP00000397484.2:p.Cys1030_Val1031delins... | |
| ENST00000700004.2:c.3173-1985_3173-1983del (MSH6) | ENSP00000514752.2:n.3173-1985_3173-1983de... | |
| ENST00000699999.1:n.3470_3472del (MSH6) | ||
| ENST00000700000.1:c.1820_1822del (MSH6) | ENSP00000514749.1:p.Cys607_Val608delinsLe... | |
| ENST00000700002.1:c.3392_3394del (MSH6) | ENSP00000514750.1:p.Cys1131_Val1132delins... | |
| ENST00000700003.1:c.841_843del (MSH6) | ENSP00000514751.1:n.841_843del | |
| ENST00000700004.1:c.2330-1985_2330-1983del (MSH6) | ENSP00000514752.1:n.2330-1985_2330-1983de... | |
| ENST00000700005.1:n.2237_2239del (MSH6) | ||
| ENST00000700006.1:n.2234_2236del (MSH6) | ||
| ENST00000700007.1:n.1391_1393del (MSH6) | ||
| ENST00000700008.1:n.965_967del (MSH6) | ||
| ENST00000700009.1:n.964_966del (MSH6) | ||
| ENST00000700010.1:n.795_797del (MSH6) | ||
| ENST00000700011.1:n.866_868del (MSH6) | ||
| ENST00000234420.11:c.3386_3388del (MSH6) MANE Select | ENSP00000234420.5:p.Cys1129_Val1130delins... | |
| ENST00000540021.6:c.2996_2998del (MSH6) | ENSP00000446475.1:p.Cys999_Val1000delinsL... | |
| ENST00000652107.1:c.3089_3091del (MSH6) | ENSP00000498629.1:p.Cys1030_Val1031delins... | |
| ENST00000673637.1:c.3089_3091del (MSH6) | ENSP00000501310.1:p.Cys1030_Val1031delins... | |
| ENST00000234420.9:c.3386_3388del (MSH6) | ENSP00000234420.4:p.Cys1129_Val1130delins... | |
| ENST00000405808.5:c.169+4560_169+4562del (FBXO11) | ENSP00000385127.1:n.169+4560_169+4562del | |
| ENST00000434234.5:c.*124+4359_*124+4361del (FBXO11) | ENSP00000402692.1:n.*124+4359_*124+4361de... | |
| ENST00000445503.5:c.*2733_*2735del (MSH6) | ENSP00000405294.1:n.*2733_*2735del | |
| ENST00000538136.1:c.2480_2482del (MSH6) | ENSP00000438580.1:p.Cys827_Val828delinsLe... | |
| ENST00000540021.5:c.2996_2998del (MSH6) | ENSP00000446475.1:p.Cys999_Val1000delinsL... | |
| ENST00000614496.4:c.2480_2482del (MSH6) | ENSP00000477844.1:p.Cys827_Val828delinsLe... | |
| ENST00000622629.4:c.289_291del (MSH6) | ENSP00000482078.1:p.Val97del | |
| NM_000179.2:c.3386_3388del , LRG_219t1:c.3386_3388del (MSH6) | NP_000170.1:p.Cys1129_Val1130delinsLeu | |
| NM_001281492.1:c.2996_2998del (MSH6) | NP_001268421.1:p.Cys999_Val1000delinsLeu | |
| NM_001281493.1:c.2480_2482del (MSH6) | NP_001268422.1:p.Cys827_Val828delinsLeu | |
| NM_001281494.1:c.2480_2482del (MSH6) | NP_001268423.1:p.Cys827_Val828delinsLeu | |
| XM_005264271.1:c.3089_3091del (MSH6) | XP_005264328.1:p.Cys1030_Val1031delinsLeu... | |
| XM_011532798.1:c.3203_3205del (MSH6) | XP_011531100.1:p.Cys1068_Val1069delinsLeu... | |
| XM_011532799.1:c.3089_3091del (MSH6) | XP_011531101.1:p.Cys1030_Val1031delinsLeu... | |
| XM_011532800.1:c.3089_3091del (MSH6) | XP_011531102.1:p.Cys1030_Val1031delinsLeu... | |
| XM_024452819.1:c.3386_3388del (MSH6) | XP_024308587.1:p.Cys1129_Val1130delinsLeu... | |
| XM_024452820.1:c.3203_3205del (MSH6) | XP_024308588.1:p.Cys1068_Val1069delinsLeu... | |
| XM_024452821.1:c.3089_3091del (MSH6) | XP_024308589.1:p.Cys1030_Val1031delinsLeu... | |
| XM_024452822.1:c.2480_2482del (MSH6) | XP_024308590.1:p.Cys827_Val828delinsLeu | |
| NM_000179.3:c.3386_3388del (MSH6) MANE Select | NP_000170.1:p.Cys1129_Val1130delinsLeu | |
| NM_001281492.2:c.2996_2998del (MSH6) | NP_001268421.1:p.Cys999_Val1000delinsLeu | |
| NM_001281493.2:c.2480_2482del (MSH6) | NP_001268422.1:p.Cys827_Val828delinsLeu | |
| NM_001281494.2:c.2480_2482del (MSH6) | NP_001268423.1:p.Cys827_Val828delinsLeu |