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_000010.11:g.53822383_53822446delinsGGGAGGAGGACAAAAAAGAGAAAAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCA , CM000672.2:g.53822383_53822446delinsGGGAGGAGGACAAAAAAGAGAAAAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCA | GRCh38 |
| NC_000010.10:g.55582143_55582206delinsGGGAGGAGGACAAAAAAGAGAAAAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCA , CM000672.1:g.55582143_55582206delinsGGGAGGAGGACAAAAAAGAGAAAAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCA | GRCh37 |
| NC_000010.9:g.55252149_55252212delinsGGGAGGAGGACAAAAAAGAGAAAAAGGAGAAATGTCAGGAGGAGGAGCAAGAGGAGCAGGAGCA | NCBI36 |
| NG_009191.2:g.983846_983909delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | |
| NG_009191.3:g.1811737_1811800delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000482794.1:n.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTT... | |
| ENST00000320301.11:c.5280_5343delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC MANE Plus Clinical | ENSP00000322604.6:p.Pro1760= | |
| ENST00000395445.6:c.4388+4947_4388+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000378832.2:n.4388+4947_4388+5010delinsTGCTCCTGCTCCTCTT... | |
| ENST00000613657.5:c.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000482794.1:n.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTT... | |
| ENST00000642496.1:c.3227-2216_3227-2153delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ||
| ENST00000644397.2:c.4368-2216_4368-2153delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC MANE Select | ENSP00000495195.1:n.4368-2216_4368-2153delinsTGCTCCTGCTCCTCTT... | |
| ENST00000320301.10:c.5280_5343delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000322604.6:p.Pro1760= | |
| ENST00000361849.7:c.5286_5349delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000354950.3:p.Pro1762= | |
| ENST00000373956.7:c.*3235_*3298delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000363067.4:n.*3235_*3298delinsTGCTCCTGCTCCTCTTGCTCCTCC... | |
| ENST00000373957.7:c.5301_5364delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000363068.4:p.Pro1767= | |
| ENST00000373965.6:c.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000363076.3:n.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTT... | |
| ENST00000395430.5:c.5271_5334delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000378818.1:p.Pro1757= | |
| ENST00000395432.6:c.5160_5223delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000378820.2:p.Pro1720= | |
| ENST00000395433.5:c.5211_5274delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000378821.1:p.Pro1737= | |
| ENST00000395438.5:c.4371+4946_4371+5009delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000378826.2:n.4371+4946_4371+5009delinsTGCTCCTGCTCCTCTT... | |
| ENST00000395440.5:c.1306-12900_1306-12837delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000378827.1:n.1306-12900_1306-12837delinsTGCTCCTGCTCCTC... | |
| ENST00000395442.5:c.1099-12900_1099-12837delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000378829.1:n.1099-12900_1099-12837delinsTGCTCCTGCTCCTC... | |
| ENST00000395445.5:c.4388+4947_4388+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000378832.2:n.4388+4947_4388+5010delinsTGCTCCTGCTCCTCTT... | |
| ENST00000395446.5:c.2092-12900_2092-12837delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000378833.1:n.2092-12900_2092-12837delinsTGCTCCTGCTCCTC... | |
| ENST00000409834.5:c.3206+2690_3206+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000386693.1:n.3206+2690_3206+2753delinsTGCTCCTGCTCCTCTT... | |
| ENST00000414367.5:c.*447+4947_*447+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000412531.1:n.*447+4947_*447+5010delinsTGCTCCTGCTCCTCTT... | |
| ENST00000414778.5:c.4370+4947_4370+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000410304.2:n.4370+4947_4370+5010delinsTGCTCCTGCTCCTCTT... | |
| ENST00000437009.5:c.5073_5136delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000412628.2:p.Pro1691= | |
| ENST00000448885.5:c.*3241_*3304delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000412320.1:n.*3241_*3304delinsTGCTCCTGCTCCTCTTGCTCCTCC... | |
| ENST00000463095.2:n.2299_2362delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ||
| ENST00000495484.5:c.462-4433_462-4370delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000480780.1:n.462-4433_462-4370delinsTGCTCCTGCTCCTCTTGC... | |
| ENST00000612394.4:c.4406+4947_4406+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000482921.1:n.4406+4947_4406+5010delinsTGCTCCTGCTCCTCTT... | |
| ENST00000613657.4:c.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000482794.1:n.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTT... | |
| ENST00000614895.4:c.4385+4947_4385+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000478512.1:n.4385+4947_4385+5010delinsTGCTCCTGCTCCTCTT... | |
| ENST00000616114.4:c.4367+4947_4367+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000483745.1:n.4367+4947_4367+5010delinsTGCTCCTGCTCCTCTT... | |
| ENST00000617051.4:c.5307_5370delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000484703.1:p.Pro1769= | |
| ENST00000617271.4:c.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000478076.1:n.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTT... | |
| ENST00000618301.4:c.594-4433_594-4370delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000482780.1:n.594-4433_594-4370delinsTGCTCCTGCTCCTCTTGC... | |
| ENST00000621708.4:c.4388+2690_4388+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000484454.1:n.4388+2690_4388+2753delinsTGCTCCTGCTCCTCTT... | |
| ENST00000622048.4:c.5079_5142delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ENSP00000482329.1:p.Pro1693= | |
| NM_001142763.1:c.5301_5364delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136235.1:p.Pro1767= | |
| NM_001142764.1:c.5286_5349delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136236.1:p.Pro1762= | |
| NM_001142765.1:c.5073_5136delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136237.1:p.Pro1691= | |
| NM_001142766.1:c.5271_5334delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136238.1:p.Pro1757= | |
| NM_001142767.1:c.5160_5223delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136239.1:p.Pro1720= | |
| NM_001142768.1:c.5220_5283delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136240.1:p.Pro1740= | |
| NM_001142769.1:c.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136241.1:n.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001142770.1:c.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136242.1:n.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001142771.1:c.4388+2690_4388+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136243.1:n.4388+2690_4388+2753delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001142772.1:c.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136244.1:n.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001142773.1:c.5211_5274delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136245.1:p.Pro1737= | |
| NM_033056.3:c.5280_5343delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_149045.3:p.Pro1760= | |
| NM_001142769.2:c.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136241.1:n.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001142770.2:c.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136242.1:n.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001354404.1:c.5214_5277delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001341333.1:p.Pro1738= | |
| NM_001354411.1:c.4388+4947_4388+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001341340.1:n.4388+4947_4388+5010delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001354420.1:c.4367+4947_4367+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001341349.1:n.4367+4947_4367+5010delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001354429.1:c.4368-4433_4368-4370delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001341358.1:n.4368-4433_4368-4370delinsTGCTCCTGCTCCTCTTGCT... | |
| XM_017016573.2:c.4388+2690_4388+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | XP_016872062.1:n.4388+2690_4388+2753delinsTGCTCCTGCTCCTCTTGCT... | |
| XR_001747192.2:n.6293_6356delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ||
| XR_001747193.2:n.6284_6347delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | ||
| NM_001142763.2:c.5301_5364delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136235.1:p.Pro1767= | |
| NM_001142764.2:c.5286_5349delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136236.1:p.Pro1762= | |
| NM_001142765.2:c.5073_5136delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136237.1:p.Pro1691= | |
| NM_001142766.2:c.5271_5334delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136238.1:p.Pro1757= | |
| NM_001142768.2:c.5220_5283delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136240.1:p.Pro1740= | |
| NM_001142769.3:c.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136241.1:n.4409+2690_4409+2753delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001142770.3:c.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136242.1:n.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001142771.2:c.4388+2690_4388+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136243.1:n.4388+2690_4388+2753delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001142772.2:c.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136244.1:n.4373+2690_4373+2753delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001142773.2:c.5211_5274delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136245.1:p.Pro1737= | |
| NM_001354411.2:c.4388+4947_4388+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001341340.1:n.4388+4947_4388+5010delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001354420.2:c.4367+4947_4367+5010delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001341349.1:n.4367+4947_4367+5010delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_001354429.2:c.4368-4433_4368-4370delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001341358.1:n.4368-4433_4368-4370delinsTGCTCCTGCTCCTCTTGCT... | |
| NM_033056.4:c.5280_5343delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC MANE Plus Clinical | NP_149045.3:p.Pro1760= | |
| NM_001142767.2:c.5160_5223delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001136239.1:p.Pro1720= | |
| NM_001354404.2:c.5214_5277delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC | NP_001341333.1:p.Pro1738= | |
| NM_001384140.1:c.4368-2216_4368-2153delinsTGCTCCTGCTCCTCTTGCTCCTCCTCCTGACATTTCTCCTTTTTCTCTTTTTTGTCCTCCTCCC MANE Select | NP_001371069.1:n.4368-2216_4368-2153delinsTGCTCCTGCTCCTCTTGCT... |