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
dbSNP Id:
rs775707902
gnomAD v2:
10-55582192-AGAGGAGCAGGAGCAGGAG-A
gnomAD v3:
10-53822432-AGAGGAGCAGGAGCAGGAG-A
gnomAD v4:
10-53822432-AGAGGAGCAGGAGCAGGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822439_53822456del , CM000672.2:g.53822439_53822456del | GRCh38 |
| NC_000010.10:g.55582199_55582216del , CM000672.1:g.55582199_55582216del | GRCh37 |
| NC_000010.9:g.55252205_55252222del | NCBI36 |
| NG_009191.2:g.983842_983859del | |
| NG_009191.3:g.1811733_1811750del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+2686_4409+2703del | ENSP00000482794.1:n.4409+2686_4409+2703del | |
| ENST00000320301.11:c.5276_5293del MANE Plus Clinical | ENSP00000322604.6:p.Pro1759_Pro1764del | |
| ENST00000395445.6:c.4388+4943_4388+4960del | ENSP00000378832.2:n.4388+4943_4388+4960del | |
| ENST00000613657.5:c.4409+2686_4409+2703del | ENSP00000482794.1:n.4409+2686_4409+2703del | |
| ENST00000642496.1:c.3227-2220_3227-2203del | ||
| ENST00000644397.2:c.4368-2220_4368-2203del MANE Select | ENSP00000495195.1:n.4368-2220_4368-2203del | |
| ENST00000320301.10:c.5276_5293del | ENSP00000322604.6:p.Pro1759_Pro1764del | |
| ENST00000361849.7:c.5282_5299del | ENSP00000354950.3:p.Pro1761_Pro1766del | |
| ENST00000373956.7:c.*3231_*3248del | ENSP00000363067.4:n.*3231_*3248del | |
| ENST00000373957.7:c.5297_5314del | ENSP00000363068.4:p.Pro1766_Pro1771del | |
| ENST00000373965.6:c.4373+2686_4373+2703del | ENSP00000363076.3:n.4373+2686_4373+2703del | |
| ENST00000395430.5:c.5267_5284del | ENSP00000378818.1:p.Pro1756_Pro1761del | |
| ENST00000395432.6:c.5156_5173del | ENSP00000378820.2:p.Pro1719_Pro1724del | |
| ENST00000395433.5:c.5207_5224del | ENSP00000378821.1:p.Pro1736_Pro1741del | |
| ENST00000395438.5:c.4371+4942_4371+4959del | ENSP00000378826.2:n.4371+4942_4371+4959del | |
| ENST00000395440.5:c.1306-12904_1306-12887del | ENSP00000378827.1:n.1306-12904_1306-12887del | |
| ENST00000395442.5:c.1099-12904_1099-12887del | ENSP00000378829.1:n.1099-12904_1099-12887del | |
| ENST00000395445.5:c.4388+4943_4388+4960del | ENSP00000378832.2:n.4388+4943_4388+4960del | |
| ENST00000395446.5:c.2092-12904_2092-12887del | ENSP00000378833.1:n.2092-12904_2092-12887del | |
| ENST00000409834.5:c.3206+2686_3206+2703del | ENSP00000386693.1:n.3206+2686_3206+2703del | |
| ENST00000414367.5:c.*447+4943_*447+4960del | ENSP00000412531.1:n.*447+4943_*447+4960del | |
| ENST00000414778.5:c.4370+4943_4370+4960del | ENSP00000410304.2:n.4370+4943_4370+4960del | |
| ENST00000437009.5:c.5069_5086del | ENSP00000412628.2:p.Pro1690_Pro1695del | |
| ENST00000448885.5:c.*3237_*3254del | ENSP00000412320.1:n.*3237_*3254del | |
| ENST00000463095.2:n.2295_2312del | ||
| ENST00000495484.5:c.462-4437_462-4420del | ENSP00000480780.1:n.462-4437_462-4420del | |
| ENST00000612394.4:c.4406+4943_4406+4960del | ENSP00000482921.1:n.4406+4943_4406+4960del | |
| ENST00000613657.4:c.4409+2686_4409+2703del | ENSP00000482794.1:n.4409+2686_4409+2703del | |
| ENST00000614895.4:c.4385+4943_4385+4960del | ENSP00000478512.1:n.4385+4943_4385+4960del | |
| ENST00000616114.4:c.4367+4943_4367+4960del | ENSP00000483745.1:n.4367+4943_4367+4960del | |
| ENST00000617051.4:c.5303_5320del | ENSP00000484703.1:p.Pro1768_Pro1773del | |
| ENST00000617271.4:c.4373+2686_4373+2703del | ENSP00000478076.1:n.4373+2686_4373+2703del | |
| ENST00000618301.4:c.594-4437_594-4420del | ENSP00000482780.1:n.594-4437_594-4420del | |
| ENST00000621708.4:c.4388+2686_4388+2703del | ENSP00000484454.1:n.4388+2686_4388+2703del | |
| ENST00000622048.4:c.5075_5092del | ENSP00000482329.1:p.Pro1692_Pro1697del | |
| NM_001142763.1:c.5297_5314del | NP_001136235.1:p.Pro1766_Pro1771del | |
| NM_001142764.1:c.5282_5299del | NP_001136236.1:p.Pro1761_Pro1766del | |
| NM_001142765.1:c.5069_5086del | NP_001136237.1:p.Pro1690_Pro1695del | |
| NM_001142766.1:c.5267_5284del | NP_001136238.1:p.Pro1756_Pro1761del | |
| NM_001142767.1:c.5156_5173del | NP_001136239.1:p.Pro1719_Pro1724del | |
| NM_001142768.1:c.5216_5233del | NP_001136240.1:p.Pro1739_Pro1744del | |
| NM_001142769.1:c.4409+2686_4409+2703del | NP_001136241.1:n.4409+2686_4409+2703del | |
| NM_001142770.1:c.4373+2686_4373+2703del | NP_001136242.1:n.4373+2686_4373+2703del | |
| NM_001142771.1:c.4388+2686_4388+2703del | NP_001136243.1:n.4388+2686_4388+2703del | |
| NM_001142772.1:c.4373+2686_4373+2703del | NP_001136244.1:n.4373+2686_4373+2703del | |
| NM_001142773.1:c.5207_5224del | NP_001136245.1:p.Pro1736_Pro1741del | |
| NM_033056.3:c.5276_5293del | NP_149045.3:p.Pro1759_Pro1764del | |
| NM_001142769.2:c.4409+2686_4409+2703del | NP_001136241.1:n.4409+2686_4409+2703del | |
| NM_001142770.2:c.4373+2686_4373+2703del | NP_001136242.1:n.4373+2686_4373+2703del | |
| NM_001354404.1:c.5210_5227del | NP_001341333.1:p.Pro1737_Pro1742del | |
| NM_001354411.1:c.4388+4943_4388+4960del | NP_001341340.1:n.4388+4943_4388+4960del | |
| NM_001354420.1:c.4367+4943_4367+4960del | NP_001341349.1:n.4367+4943_4367+4960del | |
| NM_001354429.1:c.4368-4437_4368-4420del | NP_001341358.1:n.4368-4437_4368-4420del | |
| XM_017016573.2:c.4388+2686_4388+2703del | XP_016872062.1:n.4388+2686_4388+2703del | |
| XR_001747192.2:n.6289_6306del | ||
| XR_001747193.2:n.6280_6297del | ||
| NM_001142763.2:c.5297_5314del | NP_001136235.1:p.Pro1766_Pro1771del | |
| NM_001142764.2:c.5282_5299del | NP_001136236.1:p.Pro1761_Pro1766del | |
| NM_001142765.2:c.5069_5086del | NP_001136237.1:p.Pro1690_Pro1695del | |
| NM_001142766.2:c.5267_5284del | NP_001136238.1:p.Pro1756_Pro1761del | |
| NM_001142768.2:c.5216_5233del | NP_001136240.1:p.Pro1739_Pro1744del | |
| NM_001142769.3:c.4409+2686_4409+2703del | NP_001136241.1:n.4409+2686_4409+2703del | |
| NM_001142770.3:c.4373+2686_4373+2703del | NP_001136242.1:n.4373+2686_4373+2703del | |
| NM_001142771.2:c.4388+2686_4388+2703del | NP_001136243.1:n.4388+2686_4388+2703del | |
| NM_001142772.2:c.4373+2686_4373+2703del | NP_001136244.1:n.4373+2686_4373+2703del | |
| NM_001142773.2:c.5207_5224del | NP_001136245.1:p.Pro1736_Pro1741del | |
| NM_001354411.2:c.4388+4943_4388+4960del | NP_001341340.1:n.4388+4943_4388+4960del | |
| NM_001354420.2:c.4367+4943_4367+4960del | NP_001341349.1:n.4367+4943_4367+4960del | |
| NM_001354429.2:c.4368-4437_4368-4420del | NP_001341358.1:n.4368-4437_4368-4420del | |
| NM_033056.4:c.5276_5293del MANE Plus Clinical | NP_149045.3:p.Pro1759_Pro1764del | |
| NM_001142767.2:c.5156_5173del | NP_001136239.1:p.Pro1719_Pro1724del | |
| NM_001354404.2:c.5210_5227del | NP_001341333.1:p.Pro1737_Pro1742del | |
| NM_001384140.1:c.4368-2220_4368-2203del MANE Select | NP_001371069.1:n.4368-2220_4368-2203del |