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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807671_148807675dup , CM000669.2:g.148807671_148807675dup | GRCh38 |
| NC_000007.13:g.148504763_148504767dup , CM000669.1:g.148504763_148504767dup | GRCh37 |
| NC_000007.12:g.148135696_148135700dup | NCBI36 |
| NG_032043.1:g.81675_81679dup , LRG_531:g.81675_81679dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.4127_4131dup | ||
| ENST00000682317.1:c.*1289_*1293dup | ENSP00000508286.1:n.*1289_*1293dup | |
| ENST00000683292.1:c.*1123_*1127dup | ENSP00000507503.1:n.*1123_*1127dup | |
| ENST00000683293.1:n.3946_3950dup | ||
| ENST00000683744.1:c.*1289_*1293dup | ENSP00000506949.1:n.*1289_*1293dup | |
| ENST00000684300.1:c.*1289_*1293dup | ENSP00000508407.1:n.*1289_*1293dup | |
| ENST00000684400.1:n.4214_4218dup | ||
| ENST00000684436.1:n.2543_2547dup | ||
| ENST00000684510.1:n.2605_2609dup | ||
| ENST00000320356.7:c.2227_2231dup MANE Select | ENSP00000320147.2:p.Ile744MetfsTer25 | |
| ENST00000320356.6:c.2227_2231dup | ENSP00000320147.2:p.Ile744MetfsTer25 | |
| ENST00000350995.6:c.2095_2099dup | ENSP00000223193.2:p.Ile700MetfsTer25 | |
| ENST00000460911.5:c.2212_2216dup | ENSP00000419711.1:p.Ile739MetfsTer25 | |
| ENST00000476773.5:c.2059_2063dup | ENSP00000419050.1:p.Ile688MetfsTer25 | |
| ENST00000478654.5:c.2059_2063dup | ENSP00000417062.1:p.Ile688MetfsTer25 | |
| ENST00000483967.5:c.2185_2189dup | ENSP00000419856.1:p.Ile730MetfsTer25 | |
| ENST00000492143.5:c.*2217_*2221dup | ENSP00000417377.1:n.*2217_*2221dup | |
| NM_001203247.1:c.2212_2216dup | NP_001190176.1:p.Ile739MetfsTer25 | |
| NM_001203248.1:c.2185_2189dup | NP_001190177.1:p.Ile730MetfsTer25 | |
| NM_001203249.1:c.2059_2063dup | NP_001190178.1:p.Ile688MetfsTer25 | |
| NM_004456.4:c.2227_2231dup , LRG_531t1:c.2227_2231dup | NP_004447.2:p.Ile744MetfsTer25 | |
| NM_152998.2:c.2095_2099dup | NP_694543.1:p.Ile700MetfsTer25 | |
| XM_005249962.3:c.2236_2240dup | XP_005250019.1:p.Ile747MetfsTer25 | |
| XM_005249963.3:c.2209_2213dup | XP_005250020.1:p.Ile738MetfsTer25 | |
| XM_005249964.3:c.2083_2087dup | XP_005250021.1:p.Ile696MetfsTer25 | |
| XM_011515883.1:c.2251_2255dup | XP_011514185.1:p.Ile752MetfsTer25 | |
| XM_011515884.1:c.2227_2231dup | XP_011514186.1:p.Ile744MetfsTer25 | |
| XM_011515885.1:c.2224_2228dup | XP_011514187.1:p.Ile743MetfsTer25 | |
| XM_011515886.1:c.2203_2207dup | XP_011514188.1:p.Ile736MetfsTer25 | |
| XM_011515887.1:c.2200_2204dup | XP_011514189.1:p.Ile735MetfsTer25 | |
| XM_011515888.1:c.2200_2204dup | XP_011514190.1:p.Ile735MetfsTer25 | |
| XM_011515889.1:c.2161_2165dup | XP_011514191.1:p.Ile722MetfsTer25 | |
| XM_011515890.1:c.2134_2138dup | XP_011514192.1:p.Ile713MetfsTer25 | |
| XM_011515891.1:c.2128_2132dup | XP_011514193.1:p.Ile711MetfsTer25 | |
| XM_011515892.1:c.2125_2129dup | XP_011514194.1:p.Ile710MetfsTer25 | |
| XM_011515893.1:c.2119_2123dup | XP_011514195.1:p.Ile708MetfsTer25 | |
| XM_011515894.1:c.2110_2114dup | XP_011514196.1:p.Ile705MetfsTer25 | |
| XM_011515895.1:c.2107_2111dup | XP_011514197.1:p.Ile704MetfsTer25 | |
| XM_011515896.1:c.1993_1997dup | XP_011514198.1:p.Ile666MetfsTer25 | |
| XM_011515897.1:c.1900_1904dup | XP_011514199.1:p.Ile635MetfsTer25 | |
| XM_011515898.1:c.1900_1904dup | XP_011514200.1:p.Ile635MetfsTer25 | |
| XR_928101.1:n.515+2586_515+2590dup | ||
| XR_928102.1:n.722+2586_722+2590dup | ||
| XM_005249962.4:c.2236_2240dup | XP_005250019.1:p.Ile747MetfsTer25 | |
| XM_005249963.4:c.2209_2213dup | XP_005250020.1:p.Ile738MetfsTer25 | |
| XM_005249964.4:c.2083_2087dup | XP_005250021.1:p.Ile696MetfsTer25 | |
| XM_011515883.2:c.2251_2255dup | XP_011514185.1:p.Ile752MetfsTer25 | |
| XM_011515884.2:c.2227_2231dup | XP_011514186.1:p.Ile744MetfsTer25 | |
| XM_011515885.2:c.2224_2228dup | XP_011514187.1:p.Ile743MetfsTer25 | |
| XM_011515886.2:c.2203_2207dup | XP_011514188.1:p.Ile736MetfsTer25 | |
| XM_011515887.3:c.2200_2204dup | XP_011514189.1:p.Ile735MetfsTer25 | |
| XM_011515888.2:c.2200_2204dup | XP_011514190.1:p.Ile735MetfsTer25 | |
| XM_011515889.2:c.2161_2165dup | XP_011514191.1:p.Ile722MetfsTer25 | |
| XM_011515890.2:c.2134_2138dup | XP_011514192.1:p.Ile713MetfsTer25 | |
| XM_011515891.3:c.2128_2132dup | XP_011514193.1:p.Ile711MetfsTer25 | |
| XM_011515892.2:c.2125_2129dup | XP_011514194.1:p.Ile710MetfsTer25 | |
| XM_011515893.2:c.2119_2123dup | XP_011514195.1:p.Ile708MetfsTer25 | |
| XM_011515894.2:c.2110_2114dup | XP_011514196.1:p.Ile705MetfsTer25 | |
| XM_011515895.2:c.2107_2111dup | XP_011514197.1:p.Ile704MetfsTer25 | |
| XM_011515896.2:c.1993_1997dup | XP_011514198.1:p.Ile666MetfsTer25 | |
| XM_011515897.2:c.1900_1904dup | XP_011514199.1:p.Ile635MetfsTer25 | |
| XM_011515898.2:c.1900_1904dup | XP_011514200.1:p.Ile635MetfsTer25 | |
| XM_017011817.2:c.2251_2255dup | XP_016867306.1:p.Ile752MetfsTer25 | |
| XM_017011818.1:c.2188_2192dup | XP_016867307.1:p.Ile731MetfsTer25 | |
| XM_017011819.1:c.2110_2114dup | XP_016867308.1:p.Ile705MetfsTer25 | |
| XM_017011820.2:c.2083_2087dup | XP_016867309.1:p.Ile696MetfsTer25 | |
| XM_017011821.1:c.1885_1889dup | XP_016867310.1:p.Ile630MetfsTer25 | |
| XM_024446680.1:c.2113_2117dup | XP_024302448.1:p.Ile706MetfsTer25 | |
| XR_001744581.1:n.4601_4605dup | ||
| XR_002956413.1:n.5257_5261dup | ||
| XR_002956414.1:n.5717_5721dup | ||
| NM_001203247.2:c.2212_2216dup | NP_001190176.1:p.Ile739MetfsTer25 | |
| NM_001203248.2:c.2185_2189dup | NP_001190177.1:p.Ile730MetfsTer25 | |
| NM_001203249.2:c.2059_2063dup | NP_001190178.1:p.Ile688MetfsTer25 | |
| NM_004456.5:c.2227_2231dup MANE Select | NP_004447.2:p.Ile744MetfsTer25 | |
| NM_152998.3:c.2095_2099dup | NP_694543.1:p.Ile700MetfsTer25 |