Linked Data
ClinVar Variation Id:
207370
dbSNP Id:
rs796053335
MyVariant Identifiers:
chr9:g.131394566_131394571dupGCATGC (hg19)
chr9:g.128632287_128632292dupGCATGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128632287_128632292dup , CM000671.2:g.128632287_128632292dup | GRCh38 |
| NC_000009.11:g.131394566_131394571dup , CM000671.1:g.131394566_131394571dup | GRCh37 |
| NC_000009.10:g.130434387_130434392dup | NCBI36 |
| NG_027748.1:g.84730_84735dup | |
| NG_034056.1:g.29565_29570dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000627441.3:c.6959_6964dup | ENSP00000486547.2:p.Met2321_Gln2322insArg... | |
| ENST00000630866.2:c.6986_6991dup | ENSP00000487444.1:p.Met2330_Gln2331insArg... | |
| ENST00000704202.1:c.7010_7015dup | ENSP00000515764.1:p.Met2338_Gln2339insArg... | |
| ENST00000704203.1:c.6959_6964dup | ENSP00000515765.1:p.Met2321_Gln2322insArg... | |
| ENST00000704204.1:c.6449_6454dup | ENSP00000515766.1:p.Met2151_Gln2152insArg... | |
| ENST00000704206.1:c.4528_4533dup | ||
| ENST00000704207.1:c.2865_2870dup | ||
| ENST00000706487.1:c.6923_6928dup | ENSP00000516412.1:p.Met2309_Gln2310insArg... | |
| ENST00000372739.7:c.6923_6928dup MANE Select | ENSP00000361824.4:p.Met2309_Gln2310insArg... | |
| ENST00000636010.1:n.647_652dup | ||
| ENST00000358161.9:c.6848_6853dup | ENSP00000350882.6:p.Met2284_Gln2285insArg... | |
| ENST00000372731.8:c.6908_6913dup | ENSP00000361816.4:p.Met2304_Gln2305insArg... | |
| ENST00000372739.5:c.6923_6928dup | ENSP00000361824.3:p.Met2309_Gln2310insArg... | |
| ENST00000625980.2:n.877_882dup | ||
| ENST00000630763.1:n.680_685dup | ||
| ENST00000630804.2:c.6863_6868dup | ENSP00000486308.1:p.Met2289_Gln2290insArg... | |
| ENST00000630866.1:c.6986_6991dup | ENSP00000487444.1:p.Met2330_Gln2331insArg... | |
| NM_001130438.2:c.6923_6928dup | NP_001123910.1:p.Met2309_Gln2310insArgMet... | |
| NM_001195532.1:c.6848_6853dup | NP_001182461.1:p.Met2284_Gln2285insArgMet... | |
| NM_003127.3:c.6908_6913dup | NP_003118.2:p.Met2304_Gln2305insArgMet | |
| XM_006717245.1:c.7022_7027dup | XP_006717308.1:p.Met2342_Gln2343insArgMet... | |
| XM_006717246.1:c.7007_7012dup | XP_006717309.1:p.Met2337_Gln2338insArgMet... | |
| XM_006717247.1:c.6962_6967dup | XP_006717310.1:p.Met2322_Gln2323insArgMet... | |
| XM_006717248.1:c.6959_6964dup | XP_006717311.1:p.Met2321_Gln2322insArgMet... | |
| XM_006717249.1:c.6944_6949dup | XP_006717312.1:p.Met2316_Gln2317insArgMet... | |
| XM_006717250.1:c.6941_6946dup | XP_006717313.1:p.Met2315_Gln2316insArgMet... | |
| XM_006717251.1:c.6926_6931dup | XP_006717314.1:p.Met2310_Gln2311insArgMet... | |
| XM_006717252.1:c.6899_6904dup | XP_006717315.1:p.Met2301_Gln2302insArgMet... | |
| XM_006717253.1:c.6884_6889dup | XP_006717316.1:p.Met2296_Gln2297insArgMet... | |
| XM_006717254.1:c.6986_6991dup | XP_006717317.1:p.Met2330_Gln2331insArgMet... | |
| NM_001363759.1:c.6986_6991dup | NP_001350688.1:p.Met2330_Gln2331insArgMet... | |
| NM_001363765.1:c.6863_6868dup | NP_001350694.1:p.Met2289_Gln2290insArgMet... | |
| XM_006717247.2:c.6962_6967dup | XP_006717310.1:p.Met2322_Gln2323insArgMet... | |
| XM_006717248.2:c.6959_6964dup | XP_006717311.1:p.Met2321_Gln2322insArgMet... | |
| XM_006717251.2:c.6926_6931dup | XP_006717314.1:p.Met2310_Gln2311insArgMet... | |
| XM_006717252.3:c.6899_6904dup | XP_006717315.1:p.Met2301_Gln2302insArgMet... | |
| XM_017015059.1:c.6905_6910dup | XP_016870548.1:p.Met2303_Gln2304insArgMet... | |
| XM_017015060.1:c.6881_6886dup | XP_016870549.1:p.Met2295_Gln2296insArgMet... | |
| NM_001130438.3:c.6923_6928dup MANE Select | NP_001123910.1:p.Met2309_Gln2310insArgMet... | |
| NM_001195532.2:c.6848_6853dup | NP_001182461.1:p.Met2284_Gln2285insArgMet... | |
| NM_001363759.2:c.6986_6991dup | NP_001350688.1:p.Met2330_Gln2331insArgMet... | |
| NM_001363765.2:c.6863_6868dup | NP_001350694.1:p.Met2289_Gln2290insArgMet... | |
| NM_001375310.1:c.7010_7015dup | NP_001362239.1:p.Met2338_Gln2339insArgMet... | |
| NM_001375311.2:c.6923_6928dup | NP_001362240.1:p.Met2309_Gln2310insArgMet... | |
| NM_001375312.2:c.6959_6964dup | NP_001362241.2:p.Met2321_Gln2322insArgMet... | |
| NM_001375313.1:c.6905_6910dup | NP_001362242.1:p.Met2303_Gln2304insArgMet... | |
| NM_001375314.2:c.6863_6868dup | NP_001362243.1:p.Met2289_Gln2290insArgMet... | |
| NM_001375318.1:c.7022_7027dup | NP_001362247.1:p.Met2342_Gln2343insArgMet... | |
| NM_003127.4:c.6908_6913dup | NP_003118.2:p.Met2304_Gln2305insArgMet |