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.148807670_148807671insT , CM000669.2:g.148807670_148807671insT | GRCh38 |
| NC_000007.13:g.148504762_148504763insT , CM000669.1:g.148504762_148504763insT | GRCh37 |
| NC_000007.12:g.148135695_148135696insT | NCBI36 |
| NG_032043.1:g.81679_81680insA , LRG_531:g.81679_81680insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.4131_4132insA | ||
| ENST00000682317.1:c.*1293_*1294insA | ENSP00000508286.1:n.*1293_*1294insA | |
| ENST00000683292.1:c.*1127_*1128insA | ENSP00000507503.1:n.*1127_*1128insA | |
| ENST00000683293.1:n.3950_3951insA | ||
| ENST00000683744.1:c.*1293_*1294insA | ENSP00000506949.1:n.*1293_*1294insA | |
| ENST00000684300.1:c.*1293_*1294insA | ENSP00000508407.1:n.*1293_*1294insA | |
| ENST00000684400.1:n.4218_4219insA | ||
| ENST00000684436.1:n.2547_2548insA | ||
| ENST00000684510.1:n.2609_2610insA | ||
| ENST00000320356.7:c.2231_2232insA MANE Select | ENSP00000320147.2:p.Glu745ArgfsTer18 | |
| ENST00000320356.6:c.2231_2232insA | ENSP00000320147.2:p.Glu745ArgfsTer18 | |
| ENST00000350995.6:c.2099_2100insA | ENSP00000223193.2:p.Glu701ArgfsTer18 | |
| ENST00000460911.5:c.2216_2217insA | ENSP00000419711.1:p.Glu740ArgfsTer18 | |
| ENST00000476773.5:c.2063_2064insA | ENSP00000419050.1:p.Glu689ArgfsTer18 | |
| ENST00000478654.5:c.2063_2064insA | ENSP00000417062.1:p.Glu689ArgfsTer18 | |
| ENST00000483967.5:c.2189_2190insA | ENSP00000419856.1:p.Glu731ArgfsTer18 | |
| ENST00000492143.5:c.*2221_*2222insA | ENSP00000417377.1:n.*2221_*2222insA | |
| NM_001203247.1:c.2216_2217insA | NP_001190176.1:p.Glu740ArgfsTer18 | |
| NM_001203248.1:c.2189_2190insA | NP_001190177.1:p.Glu731ArgfsTer18 | |
| NM_001203249.1:c.2063_2064insA | NP_001190178.1:p.Glu689ArgfsTer18 | |
| NM_004456.4:c.2231_2232insA , LRG_531t1:c.2231_2232insA | NP_004447.2:p.Glu745ArgfsTer18 | |
| NM_152998.2:c.2099_2100insA | NP_694543.1:p.Glu701ArgfsTer18 | |
| XM_005249962.3:c.2240_2241insA | XP_005250019.1:p.Glu748ArgfsTer18 | |
| XM_005249963.3:c.2213_2214insA | XP_005250020.1:p.Glu739ArgfsTer18 | |
| XM_005249964.3:c.2087_2088insA | XP_005250021.1:p.Glu697ArgfsTer18 | |
| XM_011515883.1:c.2255_2256insA | XP_011514185.1:p.Glu753ArgfsTer18 | |
| XM_011515884.1:c.2231_2232insA | XP_011514186.1:p.Glu745ArgfsTer18 | |
| XM_011515885.1:c.2228_2229insA | XP_011514187.1:p.Glu744ArgfsTer18 | |
| XM_011515886.1:c.2207_2208insA | XP_011514188.1:p.Glu737ArgfsTer18 | |
| XM_011515887.1:c.2204_2205insA | XP_011514189.1:p.Glu736ArgfsTer18 | |
| XM_011515888.1:c.2204_2205insA | XP_011514190.1:p.Glu736ArgfsTer18 | |
| XM_011515889.1:c.2165_2166insA | XP_011514191.1:p.Glu723ArgfsTer18 | |
| XM_011515890.1:c.2138_2139insA | XP_011514192.1:p.Glu714ArgfsTer18 | |
| XM_011515891.1:c.2132_2133insA | XP_011514193.1:p.Glu712ArgfsTer18 | |
| XM_011515892.1:c.2129_2130insA | XP_011514194.1:p.Glu711ArgfsTer18 | |
| XM_011515893.1:c.2123_2124insA | XP_011514195.1:p.Glu709ArgfsTer18 | |
| XM_011515894.1:c.2114_2115insA | XP_011514196.1:p.Glu706ArgfsTer18 | |
| XM_011515895.1:c.2111_2112insA | XP_011514197.1:p.Glu705ArgfsTer18 | |
| XM_011515896.1:c.1997_1998insA | XP_011514198.1:p.Glu667ArgfsTer18 | |
| XM_011515897.1:c.1904_1905insA | XP_011514199.1:p.Glu636ArgfsTer18 | |
| XM_011515898.1:c.1904_1905insA | XP_011514200.1:p.Glu636ArgfsTer18 | |
| XR_928101.1:n.515+2585_515+2586insT | ||
| XR_928102.1:n.722+2585_722+2586insT | ||
| XM_005249962.4:c.2240_2241insA | XP_005250019.1:p.Glu748ArgfsTer18 | |
| XM_005249963.4:c.2213_2214insA | XP_005250020.1:p.Glu739ArgfsTer18 | |
| XM_005249964.4:c.2087_2088insA | XP_005250021.1:p.Glu697ArgfsTer18 | |
| XM_011515883.2:c.2255_2256insA | XP_011514185.1:p.Glu753ArgfsTer18 | |
| XM_011515884.2:c.2231_2232insA | XP_011514186.1:p.Glu745ArgfsTer18 | |
| XM_011515885.2:c.2228_2229insA | XP_011514187.1:p.Glu744ArgfsTer18 | |
| XM_011515886.2:c.2207_2208insA | XP_011514188.1:p.Glu737ArgfsTer18 | |
| XM_011515887.3:c.2204_2205insA | XP_011514189.1:p.Glu736ArgfsTer18 | |
| XM_011515888.2:c.2204_2205insA | XP_011514190.1:p.Glu736ArgfsTer18 | |
| XM_011515889.2:c.2165_2166insA | XP_011514191.1:p.Glu723ArgfsTer18 | |
| XM_011515890.2:c.2138_2139insA | XP_011514192.1:p.Glu714ArgfsTer18 | |
| XM_011515891.3:c.2132_2133insA | XP_011514193.1:p.Glu712ArgfsTer18 | |
| XM_011515892.2:c.2129_2130insA | XP_011514194.1:p.Glu711ArgfsTer18 | |
| XM_011515893.2:c.2123_2124insA | XP_011514195.1:p.Glu709ArgfsTer18 | |
| XM_011515894.2:c.2114_2115insA | XP_011514196.1:p.Glu706ArgfsTer18 | |
| XM_011515895.2:c.2111_2112insA | XP_011514197.1:p.Glu705ArgfsTer18 | |
| XM_011515896.2:c.1997_1998insA | XP_011514198.1:p.Glu667ArgfsTer18 | |
| XM_011515897.2:c.1904_1905insA | XP_011514199.1:p.Glu636ArgfsTer18 | |
| XM_011515898.2:c.1904_1905insA | XP_011514200.1:p.Glu636ArgfsTer18 | |
| XM_017011817.2:c.2255_2256insA | XP_016867306.1:p.Glu753ArgfsTer18 | |
| XM_017011818.1:c.2192_2193insA | XP_016867307.1:p.Glu732ArgfsTer18 | |
| XM_017011819.1:c.2114_2115insA | XP_016867308.1:p.Glu706ArgfsTer18 | |
| XM_017011820.2:c.2087_2088insA | XP_016867309.1:p.Glu697ArgfsTer18 | |
| XM_017011821.1:c.1889_1890insA | XP_016867310.1:p.Glu631ArgfsTer18 | |
| XM_024446680.1:c.2117_2118insA | XP_024302448.1:p.Glu707ArgfsTer18 | |
| XR_001744581.1:n.4605_4606insA | ||
| XR_002956413.1:n.5261_5262insA | ||
| XR_002956414.1:n.5721_5722insA | ||
| NM_001203247.2:c.2216_2217insA | NP_001190176.1:p.Glu740ArgfsTer18 | |
| NM_001203248.2:c.2189_2190insA | NP_001190177.1:p.Glu731ArgfsTer18 | |
| NM_001203249.2:c.2063_2064insA | NP_001190178.1:p.Glu689ArgfsTer18 | |
| NM_004456.5:c.2231_2232insA MANE Select | NP_004447.2:p.Glu745ArgfsTer18 | |
| NM_152998.3:c.2099_2100insA | NP_694543.1:p.Glu701ArgfsTer18 |