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.53822341_53822342insTT , CM000672.2:g.53822341_53822342insTT | GRCh38 |
| NC_000010.10:g.55582101_55582102insTT , CM000672.1:g.55582101_55582102insTT | GRCh37 |
| NC_000010.9:g.55252107_55252108insTT | NCBI36 |
| NG_009191.2:g.983950_983951insAA | |
| NG_009191.3:g.1811841_1811842insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+2794_4409+2795insAA | ENSP00000482794.1:n.4409+2794_4409+2795insAA | |
| ENST00000320301.11:c.5384_5385insAA MANE Plus Clinical | ENSP00000322604.6:p.Phe1795LeufsTer? | |
| ENST00000395445.6:c.4388+5051_4388+5052insAA | ENSP00000378832.2:n.4388+5051_4388+5052insAA | |
| ENST00000613657.5:c.4409+2794_4409+2795insAA | ENSP00000482794.1:n.4409+2794_4409+2795insAA | |
| ENST00000642496.1:c.3227-2112_3227-2111insAA | ||
| ENST00000644397.2:c.4368-2112_4368-2111insAA MANE Select | ENSP00000495195.1:n.4368-2112_4368-2111insAA | |
| ENST00000320301.10:c.5384_5385insAA | ENSP00000322604.6:p.Phe1795LeufsTer? | |
| ENST00000361849.7:c.5390_5391insAA | ENSP00000354950.3:p.Phe1797LeufsTer? | |
| ENST00000373956.7:c.*3339_*3340insAA | ENSP00000363067.4:n.*3339_*3340insAA | |
| ENST00000373957.7:c.5405_5406insAA | ENSP00000363068.4:p.Phe1802LeufsTer? | |
| ENST00000373965.6:c.4373+2794_4373+2795insAA | ENSP00000363076.3:n.4373+2794_4373+2795insAA | |
| ENST00000395430.5:c.5375_5376insAA | ENSP00000378818.1:p.Phe1792LeufsTer? | |
| ENST00000395432.6:c.5264_5265insAA | ENSP00000378820.2:p.Phe1755LeufsTer? | |
| ENST00000395433.5:c.5315_5316insAA | ENSP00000378821.1:p.Phe1772LeufsTer? | |
| ENST00000395438.5:c.4371+5050_4371+5051insAA | ENSP00000378826.2:n.4371+5050_4371+5051insAA | |
| ENST00000395440.5:c.1306-12796_1306-12795insAA | ENSP00000378827.1:n.1306-12796_1306-12795insAA | |
| ENST00000395442.5:c.1099-12796_1099-12795insAA | ENSP00000378829.1:n.1099-12796_1099-12795insAA | |
| ENST00000395445.5:c.4388+5051_4388+5052insAA | ENSP00000378832.2:n.4388+5051_4388+5052insAA | |
| ENST00000395446.5:c.2092-12796_2092-12795insAA | ENSP00000378833.1:n.2092-12796_2092-12795insAA | |
| ENST00000409834.5:c.3206+2794_3206+2795insAA | ENSP00000386693.1:n.3206+2794_3206+2795insAA | |
| ENST00000414367.5:c.*447+5051_*447+5052insAA | ENSP00000412531.1:n.*447+5051_*447+5052insAA | |
| ENST00000414778.5:c.4370+5051_4370+5052insAA | ENSP00000410304.2:n.4370+5051_4370+5052insAA | |
| ENST00000437009.5:c.5177_5178insAA | ENSP00000412628.2:p.Phe1726LeufsTer? | |
| ENST00000448885.5:c.*3345_*3346insAA | ENSP00000412320.1:n.*3345_*3346insAA | |
| ENST00000463095.2:n.2403_2404insAA | ||
| ENST00000495484.5:c.462-4329_462-4328insAA | ENSP00000480780.1:n.462-4329_462-4328insAA | |
| ENST00000612394.4:c.4406+5051_4406+5052insAA | ENSP00000482921.1:n.4406+5051_4406+5052insAA | |
| ENST00000613657.4:c.4409+2794_4409+2795insAA | ENSP00000482794.1:n.4409+2794_4409+2795insAA | |
| ENST00000614895.4:c.4385+5051_4385+5052insAA | ENSP00000478512.1:n.4385+5051_4385+5052insAA | |
| ENST00000616114.4:c.4367+5051_4367+5052insAA | ENSP00000483745.1:n.4367+5051_4367+5052insAA | |
| ENST00000617051.4:c.5411_5412insAA | ENSP00000484703.1:p.Phe1804LeufsTer? | |
| ENST00000617271.4:c.4373+2794_4373+2795insAA | ENSP00000478076.1:n.4373+2794_4373+2795insAA | |
| ENST00000618301.4:c.594-4329_594-4328insAA | ENSP00000482780.1:n.594-4329_594-4328insAA | |
| ENST00000621708.4:c.4388+2794_4388+2795insAA | ENSP00000484454.1:n.4388+2794_4388+2795insAA | |
| ENST00000622048.4:c.5183_5184insAA | ENSP00000482329.1:p.Phe1728LeufsTer? | |
| NM_001142763.1:c.5405_5406insAA | NP_001136235.1:p.Phe1802LeufsTer? | |
| NM_001142764.1:c.5390_5391insAA | NP_001136236.1:p.Phe1797LeufsTer? | |
| NM_001142765.1:c.5177_5178insAA | NP_001136237.1:p.Phe1726LeufsTer? | |
| NM_001142766.1:c.5375_5376insAA | NP_001136238.1:p.Phe1792LeufsTer? | |
| NM_001142767.1:c.5264_5265insAA | NP_001136239.1:p.Phe1755LeufsTer? | |
| NM_001142768.1:c.5324_5325insAA | NP_001136240.1:p.Phe1775LeufsTer? | |
| NM_001142769.1:c.4409+2794_4409+2795insAA | NP_001136241.1:n.4409+2794_4409+2795insAA | |
| NM_001142770.1:c.4373+2794_4373+2795insAA | NP_001136242.1:n.4373+2794_4373+2795insAA | |
| NM_001142771.1:c.4388+2794_4388+2795insAA | NP_001136243.1:n.4388+2794_4388+2795insAA | |
| NM_001142772.1:c.4373+2794_4373+2795insAA | NP_001136244.1:n.4373+2794_4373+2795insAA | |
| NM_001142773.1:c.5315_5316insAA | NP_001136245.1:p.Phe1772LeufsTer? | |
| NM_033056.3:c.5384_5385insAA | NP_149045.3:p.Phe1795LeufsTer? | |
| NM_001142769.2:c.4409+2794_4409+2795insAA | NP_001136241.1:n.4409+2794_4409+2795insAA | |
| NM_001142770.2:c.4373+2794_4373+2795insAA | NP_001136242.1:n.4373+2794_4373+2795insAA | |
| NM_001354404.1:c.5318_5319insAA | NP_001341333.1:p.Phe1773LeufsTer? | |
| NM_001354411.1:c.4388+5051_4388+5052insAA | NP_001341340.1:n.4388+5051_4388+5052insAA | |
| NM_001354420.1:c.4367+5051_4367+5052insAA | NP_001341349.1:n.4367+5051_4367+5052insAA | |
| NM_001354429.1:c.4368-4329_4368-4328insAA | NP_001341358.1:n.4368-4329_4368-4328insAA | |
| XM_017016573.2:c.4388+2794_4388+2795insAA | XP_016872062.1:n.4388+2794_4388+2795insAA | |
| XR_001747192.2:n.6397_6398insAA | ||
| XR_001747193.2:n.6388_6389insAA | ||
| NM_001142763.2:c.5405_5406insAA | NP_001136235.1:p.Phe1802LeufsTer? | |
| NM_001142764.2:c.5390_5391insAA | NP_001136236.1:p.Phe1797LeufsTer? | |
| NM_001142765.2:c.5177_5178insAA | NP_001136237.1:p.Phe1726LeufsTer? | |
| NM_001142766.2:c.5375_5376insAA | NP_001136238.1:p.Phe1792LeufsTer? | |
| NM_001142768.2:c.5324_5325insAA | NP_001136240.1:p.Phe1775LeufsTer? | |
| NM_001142769.3:c.4409+2794_4409+2795insAA | NP_001136241.1:n.4409+2794_4409+2795insAA | |
| NM_001142770.3:c.4373+2794_4373+2795insAA | NP_001136242.1:n.4373+2794_4373+2795insAA | |
| NM_001142771.2:c.4388+2794_4388+2795insAA | NP_001136243.1:n.4388+2794_4388+2795insAA | |
| NM_001142772.2:c.4373+2794_4373+2795insAA | NP_001136244.1:n.4373+2794_4373+2795insAA | |
| NM_001142773.2:c.5315_5316insAA | NP_001136245.1:p.Phe1772LeufsTer? | |
| NM_001354411.2:c.4388+5051_4388+5052insAA | NP_001341340.1:n.4388+5051_4388+5052insAA | |
| NM_001354420.2:c.4367+5051_4367+5052insAA | NP_001341349.1:n.4367+5051_4367+5052insAA | |
| NM_001354429.2:c.4368-4329_4368-4328insAA | NP_001341358.1:n.4368-4329_4368-4328insAA | |
| NM_033056.4:c.5384_5385insAA MANE Plus Clinical | NP_149045.3:p.Phe1795LeufsTer? | |
| NM_001142767.2:c.5264_5265insAA | NP_001136239.1:p.Phe1755LeufsTer? | |
| NM_001354404.2:c.5318_5319insAA | NP_001341333.1:p.Phe1773LeufsTer? | |
| NM_001384140.1:c.4368-2112_4368-2111insAA MANE Select | NP_001371069.1:n.4368-2112_4368-2111insAA |