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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749540_75749541dup , CM000663.2:g.75749540_75749541dup | GRCh38 |
| NC_000001.10:g.76215225_76215226dup , CM000663.1:g.76215225_76215226dup | GRCh37 |
| NC_000001.9:g.75987813_75987814dup | NCBI36 |
| NG_007045.2:g.30183_30184dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.830_831dup MANE Select | ENSP00000359878.5:p.Asp278LeufsTer7 | |
| ENST00000473018.3:n.2954_2955dup | ||
| ENST00000532207.6:n.1719_1720dup | ||
| ENST00000541113.6:c.830_831dup | ENSP00000442324.2:p.Asp278LeufsTer20 | |
| ENST00000679509.1:n.1792_1793dup | ||
| ENST00000679530.1:c.*598_*599dup | ENSP00000506454.1:n.*598_*599dup | |
| ENST00000679615.1:n.2845_2846dup | ||
| ENST00000679687.1:c.392_393dup | ENSP00000506598.1:p.Asp132LeufsTer7 | |
| ENST00000679704.1:c.*596_*597dup | ENSP00000505117.1:n.*596_*597dup | |
| ENST00000679709.1:c.*793_*794dup | ENSP00000506623.1:n.*793_*794dup | |
| ENST00000679976.1:c.*414_*415dup | ENSP00000505565.1:n.*414_*415dup | |
| ENST00000680166.1:n.4119_4120dup | ||
| ENST00000680517.1:c.*218_*219dup | ENSP00000505803.1:n.*218_*219dup | |
| ENST00000680582.1:n.1792_1793dup | ||
| ENST00000680613.1:c.*201_*202dup | ENSP00000506114.1:n.*201_*202dup | |
| ENST00000680662.1:c.*744_*745dup | ENSP00000505080.1:n.*744_*745dup | |
| ENST00000680691.1:c.*493_*494dup | ENSP00000506487.1:n.*493_*494dup | |
| ENST00000680694.1:c.*418_*419dup | ENSP00000505658.1:n.*418_*419dup | |
| ENST00000680743.1:c.*497_*498dup | ENSP00000505073.1:n.*497_*498dup | |
| ENST00000680749.1:c.*115_*116dup | ENSP00000505122.1:n.*115_*116dup | |
| ENST00000680798.1:c.*305_*306dup | ENSP00000505670.1:n.*305_*306dup | |
| ENST00000680805.1:c.709-911_709-910dup | ENSP00000505447.1:n.709-911_709-910dup | |
| ENST00000680844.1:c.*614_*615dup | ENSP00000506541.1:n.*614_*615dup | |
| ENST00000680948.1:c.*697_*698dup | ENSP00000505441.1:n.*697_*698dup | |
| ENST00000680964.1:c.830_831dup | ENSP00000505961.1:p.Asp278LeufsTer7 | |
| ENST00000681037.1:c.*2314_*2315dup | ENSP00000506025.1:n.*2314_*2315dup | |
| ENST00000681063.1:c.600-911_600-910dup | ENSP00000506616.1:n.600-911_600-910dup | |
| ENST00000681209.1:c.*485_*486dup | ENSP00000505877.1:n.*485_*486dup | |
| ENST00000681278.1:n.1187_1188dup | ||
| ENST00000681289.1:n.4825_4826dup | ||
| ENST00000681361.1:c.*497_*498dup | ENSP00000506679.1:n.*497_*498dup | |
| ENST00000681430.1:c.830_831dup | ENSP00000506301.1:p.Asp278LeufsTer7 | |
| ENST00000681446.1:c.*412_*413dup | ENSP00000506244.1:n.*412_*413dup | |
| ENST00000681450.1:c.*501_*502dup | ENSP00000505660.1:n.*501_*502dup | |
| ENST00000681548.1:c.*416_*417dup | ENSP00000505275.1:n.*416_*417dup | |
| ENST00000681616.1:c.*489_*490dup | ENSP00000505111.1:n.*489_*490dup | |
| ENST00000681621.1:c.*414_*415dup | ENSP00000505770.1:n.*414_*415dup | |
| ENST00000681680.1:n.2925_2926dup | ||
| ENST00000681720.1:c.*285_*286dup | ENSP00000505438.1:n.*285_*286dup | |
| ENST00000681730.1:n.1052_1053dup | ||
| ENST00000681790.1:c.572_573dup | ENSP00000505130.1:p.Asp192LeufsTer7 | |
| ENST00000681837.1:n.1446_1447dup | ||
| ENST00000681913.1:n.2954_2955dup | ||
| ENST00000681916.1:c.*598_*599dup | ENSP00000506477.1:n.*598_*599dup | |
| ENST00000681930.1:n.2954_2955dup | ||
| ENST00000370834.9:c.929_930dup | ENSP00000359871.5:p.Asp311LeufsTer7 | |
| ENST00000370841.8:c.830_831dup | ENSP00000359878.4:p.Asp278LeufsTer7 | |
| ENST00000420607.6:c.842_843dup | ENSP00000409612.2:p.Asp282LeufsTer7 | |
| ENST00000525808.5:c.*416_*417dup | ENSP00000434823.1:n.*416_*417dup | |
| ENST00000526129.5:c.*614_*615dup | ENSP00000434092.1:n.*614_*615dup | |
| ENST00000526196.5:c.*598_*599dup | ENSP00000431953.1:n.*598_*599dup | |
| ENST00000528016.1:c.44_45dup | ENSP00000434284.1:p.Asp16LeufsTer7 | |
| ENST00000529059.5:n.739_740dup | ||
| ENST00000532207.5:n.560_561dup | ||
| ENST00000532509.5:c.*594_*595dup | ENSP00000432522.1:n.*594_*595dup | |
| ENST00000534334.5:c.*414_*415dup | ENSP00000435584.1:n.*414_*415dup | |
| ENST00000541113.5:c.722_723dup | ENSP00000442324.1:p.Asp242LeufsTer7 | |
| NM_000016.5:c.830_831dup | NP_000007.1:p.Asp278LeufsTer7 | |
| NM_001127328.2:c.842_843dup | NP_001120800.1:p.Asp282LeufsTer7 | |
| NM_001286042.1:c.722_723dup | NP_001272971.1:p.Asp242LeufsTer7 | |
| NM_001286043.1:c.929_930dup | NP_001272972.1:p.Asp311LeufsTer7 | |
| NM_001286044.1:c.263_264dup | NP_001272973.1:p.Asp89LeufsTer7 | |
| NM_000016.6:c.830_831dup MANE Select | NP_000007.1:p.Asp278LeufsTer7 | |
| NM_001127328.3:c.842_843dup | NP_001120800.1:p.Asp282LeufsTer7 | |
| NM_001286042.2:c.722_723dup | NP_001272971.1:p.Asp242LeufsTer7 | |
| NM_001286043.2:c.929_930dup | NP_001272972.1:p.Asp311LeufsTer7 | |
| NM_001286044.2:c.263_264dup | NP_001272973.1:p.Asp89LeufsTer7 |