UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
1058626
dbSNP Id:
rs776322353
gnomAD v2:
2-48033738-C-CATAGAAAAGCAAGAGAATTTGAGAAGA
gnomAD v4:
2-47806599-C-CATAGAAAAGCAAGAGAATTTGAGAAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806600_47806626dup , CM000664.2:g.47806600_47806626dup | GRCh38 |
| NC_000002.11:g.48033739_48033765dup , CM000664.1:g.48033739_48033765dup | GRCh37 |
| NC_000002.10:g.47887243_47887269dup | NCBI36 |
| NG_007111.1:g.28454_28480dup , LRG_219:g.28454_28480dup | |
| NG_008397.1:g.104050_104076dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3653_3679dup (MSH6) | ENSP00000406248.2:p.Lys1226_Met1227insAsnArgLysAlaArgGluPheGl... | |
| ENST00000420813.6:c.3653_3679dup (MSH6) | ENSP00000390382.2:p.Lys1226_Met1227insAsnArgLysAlaArgGluPheGl... | |
| ENST00000455383.6:c.3653_3679dup (MSH6) | ENSP00000397484.2:p.Lys1226_Met1227insAsnArgLysAlaArgGluPheGl... | |
| ENST00000700004.2:c.3566_3592dup (MSH6) | ENSP00000514752.2:p.Lys1197_Met1198insAsnArgLysAlaArgGluPheGl... | |
| ENST00000699999.1:n.4624_4650dup (MSH6) | ||
| ENST00000700000.1:c.2384_2410dup (MSH6) | ENSP00000514749.1:p.Lys803_Met804insAsnArgLysAlaArgGluPheGluL... | |
| ENST00000700002.1:c.3956_3982dup (MSH6) | ENSP00000514750.1:p.Lys1327_Met1328insAsnArgLysAlaArgGluPheGl... | |
| ENST00000700003.1:c.1405_1431dup (MSH6) | ENSP00000514751.1:n.1405_1431dup | |
| ENST00000700004.1:c.2723_2749dup (MSH6) | ENSP00000514752.1:p.Lys916_Met917insAsnArgLysAlaArgGluPheGluL... | |
| ENST00000700005.1:n.2801_2827dup (MSH6) | ||
| ENST00000700006.1:n.5108_5134dup (MSH6) | ||
| ENST00000700007.1:n.2545_2571dup (MSH6) | ||
| ENST00000700008.1:n.2212_2238dup (MSH6) | ||
| ENST00000700009.1:n.2614_2640dup (MSH6) | ||
| ENST00000700010.1:n.1359_1385dup (MSH6) | ||
| ENST00000700011.1:n.3244_3270dup (MSH6) | ||
| ENST00000682451.1:n.4122_4148dup (FBXO11) | ||
| ENST00000684712.1:n.4384_4410dup (FBXO11) | ||
| ENST00000234420.11:c.3950_3976dup (MSH6) MANE Select | ENSP00000234420.5:p.Lys1325_Met1326insAsnArgLysAlaArgGluPheGl... | |
| ENST00000540021.6:c.3560_3586dup (MSH6) | ENSP00000446475.1:p.Lys1195_Met1196insAsnArgLysAlaArgGluPheGl... | |
| ENST00000652107.1:c.3653_3679dup (MSH6) | ENSP00000498629.1:p.Lys1226_Met1227insAsnArgLysAlaArgGluPheGl... | |
| ENST00000673637.1:c.3653_3679dup (MSH6) | ENSP00000501310.1:p.Lys1226_Met1227insAsnArgLysAlaArgGluPheGl... | |
| ENST00000234420.9:c.3950_3976dup (MSH6) | ENSP00000234420.4:p.Lys1325_Met1326insAsnArgLysAlaArgGluPheGl... | |
| ENST00000405808.5:c.169+1569_169+1595dup (FBXO11) | ENSP00000385127.1:n.169+1569_169+1595dup | |
| ENST00000434234.5:c.*124+1368_*124+1394dup (FBXO11) | ENSP00000402692.1:n.*124+1368_*124+1394dup | |
| ENST00000445503.5:c.*3297_*3323dup (MSH6) | ENSP00000405294.1:n.*3297_*3323dup | |
| ENST00000538136.1:c.3044_3070dup (MSH6) | ENSP00000438580.1:p.Lys1023_Met1024insAsnArgLysAlaArgGluPheGl... | |
| ENST00000540021.5:c.3560_3586dup (MSH6) | ENSP00000446475.1:p.Lys1195_Met1196insAsnArgLysAlaArgGluPheGl... | |
| ENST00000614496.4:c.3044_3070dup (MSH6) | ENSP00000477844.1:p.Lys1023_Met1024insAsnArgLysAlaArgGluPheGl... | |
| ENST00000622629.4:c.851_877dup (MSH6) | ENSP00000482078.1:p.Lys292_Met293insAsnArgLysAlaArgGluPheGluL... | |
| NM_000179.2:c.3950_3976dup , LRG_219t1:c.3950_3976dup (MSH6) | NP_000170.1:p.Lys1325_Met1326insAsnArgLysAlaArgGluPheGluLys | |
| NM_001281492.1:c.3560_3586dup (MSH6) | NP_001268421.1:p.Lys1195_Met1196insAsnArgLysAlaArgGluPheGluLy... | |
| NM_001281493.1:c.3044_3070dup (MSH6) | NP_001268422.1:p.Lys1023_Met1024insAsnArgLysAlaArgGluPheGluLy... | |
| NM_001281494.1:c.3044_3070dup (MSH6) | NP_001268423.1:p.Lys1023_Met1024insAsnArgLysAlaArgGluPheGluLy... | |
| XM_005264271.1:c.3653_3679dup (MSH6) | XP_005264328.1:p.Lys1226_Met1227insAsnArgLysAlaArgGluPheGluLy... | |
| XM_011532798.1:c.3767_3793dup (MSH6) | XP_011531100.1:p.Lys1264_Met1265insAsnArgLysAlaArgGluPheGluLy... | |
| XM_011532799.1:c.3653_3679dup (MSH6) | XP_011531101.1:p.Lys1226_Met1227insAsnArgLysAlaArgGluPheGluLy... | |
| XM_011532800.1:c.3653_3679dup (MSH6) | XP_011531102.1:p.Lys1226_Met1227insAsnArgLysAlaArgGluPheGluLy... | |
| XM_024452819.1:c.4043_4069dup (MSH6) | XP_024308587.1:p.Lys1356_Met1357insAsnArgLysAlaArgGluPheGluLy... | |
| XM_024452820.1:c.3860_3886dup (MSH6) | XP_024308588.1:p.Lys1295_Met1296insAsnArgLysAlaArgGluPheGluLy... | |
| XM_024452821.1:c.3746_3772dup (MSH6) | XP_024308589.1:p.Lys1257_Met1258insAsnArgLysAlaArgGluPheGluLy... | |
| XM_024452822.1:c.3137_3163dup (MSH6) | XP_024308590.1:p.Lys1054_Met1055insAsnArgLysAlaArgGluPheGluLy... | |
| NM_000179.3:c.3950_3976dup (MSH6) MANE Select | NP_000170.1:p.Lys1325_Met1326insAsnArgLysAlaArgGluPheGluLys | |
| NM_001281492.2:c.3560_3586dup (MSH6) | NP_001268421.1:p.Lys1195_Met1196insAsnArgLysAlaArgGluPheGluLy... | |
| NM_001281493.2:c.3044_3070dup (MSH6) | NP_001268422.1:p.Lys1023_Met1024insAsnArgLysAlaArgGluPheGluLy... | |
| NM_001281494.2:c.3044_3070dup (MSH6) | NP_001268423.1:p.Lys1023_Met1024insAsnArgLysAlaArgGluPheGluLy... |