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_000016.10:g.2086364_2086637del , CM000678.2:g.2086364_2086637del | GRCh38 |
| NC_000016.9:g.2136365_2136638del , CM000678.1:g.2136365_2136638del | GRCh37 |
| NC_000016.8:g.2076366_2076639del | NCBI36 |
| NG_005895.1:g.42059_42332del , LRG_487:g.42059_42332del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3183_*3199-95del | ||
| ENST00000642206.2:c.4681_4697-95del | ||
| ENST00000642365.2:c.4831_4847-95del | ||
| ENST00000644417.2:c.*5347_*5363-95del | ||
| ENST00000646464.2:c.*7583_*7599-95del | ||
| ENST00000219476.9:c.4834_4850-95del | ||
| ENST00000350773.9:c.4765_4781-95del | ||
| ENST00000401874.7:c.4633_4649-95del | ||
| ENST00000568454.6:c.4666_4682-95del | ||
| ENST00000569110.2:c.1057_1073-95del | ||
| ENST00000569930.2:n.2716_2732-95del | ||
| ENST00000642365.1:c.3488_3504-95del | ||
| ENST00000642561.1:c.4705_4721-95del | ||
| ENST00000642728.1:n.1016_1032-95del | ||
| ENST00000642791.1:n.431_447-95del | ||
| ENST00000642797.1:c.4636_4652-95del | ||
| ENST00000642936.1:c.4702_4718-95del | ||
| ENST00000643088.1:c.4627_4643-95del | ||
| ENST00000643177.1:n.848_864-95del | ||
| ENST00000643426.1:n.2482_2498-95del | ||
| ENST00000643946.1:c.4759_4775-95del | ||
| ENST00000644043.1:c.4705_4721-95del | ||
| ENST00000644278.1:n.316_332-95del | ||
| ENST00000644329.1:c.4633_4649-95del | ||
| ENST00000644335.1:c.4630_4646-95del | ||
| ENST00000644399.1:c.4755_4771-95del | ||
| ENST00000645024.1:n.2918_2934-95del | ||
| ENST00000646388.1:c.4828_4844-95del | ||
| ENST00000646634.1:n.3649_3665-95del | ||
| ENST00000646674.1:n.2086_2102-95del | ||
| ENST00000647042.1:n.2057_2073-95del | ||
| ENST00000647180.1:n.1947_1963-95del | ||
| ENST00000219476.7:c.4834_4850-95del | ||
| ENST00000350773.8:c.4765_4781-95del | ||
| ENST00000382538.10:c.4489_4505-95del | ||
| ENST00000401874.6:c.4633_4649-95del | ||
| ENST00000439117.6:c.*4001_*4017-95del | ||
| ENST00000439673.6:c.4525_4541-95del | ||
| ENST00000497886.5:n.2592_2608-130del | ||
| ENST00000568454.5:c.4666_4682-95del | ||
| ENST00000569110.1:c.1016_1032-95del | ||
| ENST00000569930.1:n.1949_1965-95del | ||
| NM_000548.3:c.4834_4850-95del , LRG_487t1:c.4834_4850-95del | ||
| NM_001077183.1:c.4633_4649-95del | ||
| NM_001114382.1:c.4765_4781-95del | ||
| XM_005255529.3:c.4705_4721-95del | ||
| XM_005255531.3:c.4636_4652-95del | ||
| XM_011522636.1:c.4888_4904-95del | ||
| XM_011522637.1:c.4885_4901-95del | ||
| XM_011522638.1:c.4777_4793-95del | ||
| XM_011522639.1:c.4759_4775-95del | ||
| XM_011522640.1:c.4756_4772-95del | ||
| XM_011522641.1:c.4525_4541-95del | ||
| NM_000548.4:c.4834_4850-95del | ||
| NM_001077183.2:c.4633_4649-95del | ||
| NM_001114382.2:c.4765_4781-95del | ||
| NM_001318827.1:c.4525_4541-95del | ||
| NM_001318829.1:c.4489_4505-95del | ||
| NM_001318831.1:c.4102_4118-95del | ||
| NM_001318832.1:c.4666_4682-95del | ||
| NM_001363528.1:c.4636_4652-95del | ||
| NM_021055.2:c.4705_4721-95del | ||
| XM_005255531.4:c.4636_4652-95del | ||
| XM_011522636.2:c.4888_4904-95del | ||
| XM_011522637.2:c.4885_4901-95del | ||
| XM_011522638.2:c.5050_5066-95del | ||
| XM_011522639.2:c.4759_4775-95del | ||
| XM_011522640.2:c.4756_4772-95del | ||
| XM_017023615.1:c.4831_4847-95del | ||
| XM_017023616.1:c.4702_4718-95del | ||
| XM_017023617.1:c.4798_4814-95del | ||
| XM_017023618.1:c.3544_3560-95del | ||
| XM_024450413.1:c.4633_4649-95del | ||
| NM_000548.5:c.4834_4850-95del | ||
| NM_001370404.1:c.4702_4718-95del | ||
| NM_001370405.1:c.4705_4721-95del | ||
| NM_001077183.3:c.4633_4649-95del | ||
| NM_001114382.3:c.4765_4781-95del | ||
| NM_001318827.2:c.4525_4541-95del | ||
| NM_001318829.2:c.4489_4505-95del | ||
| NM_001318831.2:c.4102_4118-95del | ||
| NM_001318832.2:c.4666_4682-95del | ||
| NM_001363528.2:c.4636_4652-95del | ||
| NM_021055.3:c.4705_4721-95del |