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.148807668_148807673del , CM000669.2:g.148807668_148807673del | GRCh38 |
| NC_000007.13:g.148504760_148504765del , CM000669.1:g.148504760_148504765del | GRCh37 |
| NC_000007.12:g.148135693_148135698del | NCBI36 |
| NG_032043.1:g.81677_81682del , LRG_531:g.81677_81682del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.4129_4134del | ||
| ENST00000682317.1:c.*1291_*1296del | ENSP00000508286.1:n.*1291_*1296del | |
| ENST00000683292.1:c.*1125_*1130del | ENSP00000507503.1:n.*1125_*1130del | |
| ENST00000683293.1:n.3948_3953del | ||
| ENST00000683744.1:c.*1291_*1296del | ENSP00000506949.1:n.*1291_*1296del | |
| ENST00000684300.1:c.*1291_*1296del | ENSP00000508407.1:n.*1291_*1296del | |
| ENST00000684400.1:n.4216_4221del | ||
| ENST00000684436.1:n.2545_2550del | ||
| ENST00000684510.1:n.2607_2612del | ||
| ENST00000320356.7:c.2229_2234del MANE Select | ENSP00000320147.2:p.Ile744_Glu745del | |
| ENST00000320356.6:c.2229_2234del | ENSP00000320147.2:p.Ile744_Glu745del | |
| ENST00000350995.6:c.2097_2102del | ENSP00000223193.2:p.Ile700_Glu701del | |
| ENST00000460911.5:c.2214_2219del | ENSP00000419711.1:p.Ile739_Glu740del | |
| ENST00000476773.5:c.2061_2066del | ENSP00000419050.1:p.Ile688_Glu689del | |
| ENST00000478654.5:c.2061_2066del | ENSP00000417062.1:p.Ile688_Glu689del | |
| ENST00000483967.5:c.2187_2192del | ENSP00000419856.1:p.Ile730_Glu731del | |
| ENST00000492143.5:c.*2219_*2224del | ENSP00000417377.1:n.*2219_*2224del | |
| NM_001203247.1:c.2214_2219del | NP_001190176.1:p.Ile739_Glu740del | |
| NM_001203248.1:c.2187_2192del | NP_001190177.1:p.Ile730_Glu731del | |
| NM_001203249.1:c.2061_2066del | NP_001190178.1:p.Ile688_Glu689del | |
| NM_004456.4:c.2229_2234del , LRG_531t1:c.2229_2234del | NP_004447.2:p.Ile744_Glu745del | |
| NM_152998.2:c.2097_2102del | NP_694543.1:p.Ile700_Glu701del | |
| XM_005249962.3:c.2238_2243del | XP_005250019.1:p.Ile747_Glu748del | |
| XM_005249963.3:c.2211_2216del | XP_005250020.1:p.Ile738_Glu739del | |
| XM_005249964.3:c.2085_2090del | XP_005250021.1:p.Ile696_Glu697del | |
| XM_011515883.1:c.2253_2258del | XP_011514185.1:p.Ile752_Glu753del | |
| XM_011515884.1:c.2229_2234del | XP_011514186.1:p.Ile744_Glu745del | |
| XM_011515885.1:c.2226_2231del | XP_011514187.1:p.Ile743_Glu744del | |
| XM_011515886.1:c.2205_2210del | XP_011514188.1:p.Ile736_Glu737del | |
| XM_011515887.1:c.2202_2207del | XP_011514189.1:p.Ile735_Glu736del | |
| XM_011515888.1:c.2202_2207del | XP_011514190.1:p.Ile735_Glu736del | |
| XM_011515889.1:c.2163_2168del | XP_011514191.1:p.Ile722_Glu723del | |
| XM_011515890.1:c.2136_2141del | XP_011514192.1:p.Ile713_Glu714del | |
| XM_011515891.1:c.2130_2135del | XP_011514193.1:p.Ile711_Glu712del | |
| XM_011515892.1:c.2127_2132del | XP_011514194.1:p.Ile710_Glu711del | |
| XM_011515893.1:c.2121_2126del | XP_011514195.1:p.Ile708_Glu709del | |
| XM_011515894.1:c.2112_2117del | XP_011514196.1:p.Ile705_Glu706del | |
| XM_011515895.1:c.2109_2114del | XP_011514197.1:p.Ile704_Glu705del | |
| XM_011515896.1:c.1995_2000del | XP_011514198.1:p.Ile666_Glu667del | |
| XM_011515897.1:c.1902_1907del | XP_011514199.1:p.Ile635_Glu636del | |
| XM_011515898.1:c.1902_1907del | XP_011514200.1:p.Ile635_Glu636del | |
| XR_928101.1:n.515+2583_515+2588del | ||
| XR_928102.1:n.722+2583_722+2588del | ||
| XM_005249962.4:c.2238_2243del | XP_005250019.1:p.Ile747_Glu748del | |
| XM_005249963.4:c.2211_2216del | XP_005250020.1:p.Ile738_Glu739del | |
| XM_005249964.4:c.2085_2090del | XP_005250021.1:p.Ile696_Glu697del | |
| XM_011515883.2:c.2253_2258del | XP_011514185.1:p.Ile752_Glu753del | |
| XM_011515884.2:c.2229_2234del | XP_011514186.1:p.Ile744_Glu745del | |
| XM_011515885.2:c.2226_2231del | XP_011514187.1:p.Ile743_Glu744del | |
| XM_011515886.2:c.2205_2210del | XP_011514188.1:p.Ile736_Glu737del | |
| XM_011515887.3:c.2202_2207del | XP_011514189.1:p.Ile735_Glu736del | |
| XM_011515888.2:c.2202_2207del | XP_011514190.1:p.Ile735_Glu736del | |
| XM_011515889.2:c.2163_2168del | XP_011514191.1:p.Ile722_Glu723del | |
| XM_011515890.2:c.2136_2141del | XP_011514192.1:p.Ile713_Glu714del | |
| XM_011515891.3:c.2130_2135del | XP_011514193.1:p.Ile711_Glu712del | |
| XM_011515892.2:c.2127_2132del | XP_011514194.1:p.Ile710_Glu711del | |
| XM_011515893.2:c.2121_2126del | XP_011514195.1:p.Ile708_Glu709del | |
| XM_011515894.2:c.2112_2117del | XP_011514196.1:p.Ile705_Glu706del | |
| XM_011515895.2:c.2109_2114del | XP_011514197.1:p.Ile704_Glu705del | |
| XM_011515896.2:c.1995_2000del | XP_011514198.1:p.Ile666_Glu667del | |
| XM_011515897.2:c.1902_1907del | XP_011514199.1:p.Ile635_Glu636del | |
| XM_011515898.2:c.1902_1907del | XP_011514200.1:p.Ile635_Glu636del | |
| XM_017011817.2:c.2253_2258del | XP_016867306.1:p.Ile752_Glu753del | |
| XM_017011818.1:c.2190_2195del | XP_016867307.1:p.Ile731_Glu732del | |
| XM_017011819.1:c.2112_2117del | XP_016867308.1:p.Ile705_Glu706del | |
| XM_017011820.2:c.2085_2090del | XP_016867309.1:p.Ile696_Glu697del | |
| XM_017011821.1:c.1887_1892del | XP_016867310.1:p.Ile630_Glu631del | |
| XM_024446680.1:c.2115_2120del | XP_024302448.1:p.Ile706_Glu707del | |
| XR_001744581.1:n.4603_4608del | ||
| XR_002956413.1:n.5259_5264del | ||
| XR_002956414.1:n.5719_5724del | ||
| NM_001203247.2:c.2214_2219del | NP_001190176.1:p.Ile739_Glu740del | |
| NM_001203248.2:c.2187_2192del | NP_001190177.1:p.Ile730_Glu731del | |
| NM_001203249.2:c.2061_2066del | NP_001190178.1:p.Ile688_Glu689del | |
| NM_004456.5:c.2229_2234del MANE Select | NP_004447.2:p.Ile744_Glu745del | |
| NM_152998.3:c.2097_2102del | NP_694543.1:p.Ile700_Glu701del |