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
gnomAD v4:
3-12599558-AATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12599560_12599562del , CM000665.2:g.12599560_12599562del | GRCh38 |
| NC_000003.11:g.12641059_12641061del , CM000665.1:g.12641059_12641061del | GRCh37 |
| NC_000003.10:g.12616059_12616061del | NCBI36 |
| NG_007467.1:g.69619_69621del , LRG_413:g.69619_69621del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*773+130_*773+132del | ENSP00000401088.1:n.*773+130_*773+132del | |
| ENST00000432427.3:c.428+130_428+132del | ||
| ENST00000465826.6:n.699+130_699+132del | ||
| ENST00000491290.2:n.1485+130_1485+132del | ||
| ENST00000684903.1:c.*785+130_*785+132del | ENSP00000508612.1:n.*785+130_*785+132del | |
| ENST00000685348.1:c.*785+130_*785+132del | ENSP00000510285.1:n.*785+130_*785+132del | |
| ENST00000685437.1:c.1009+130_1009+132del | ENSP00000508794.1:n.1009+130_1009+132del | |
| ENST00000685653.1:c.1108+130_1108+132del | ENSP00000509968.1:n.1108+130_1108+132del | |
| ENST00000685738.1:c.1108+130_1108+132del | ENSP00000510156.1:n.1108+130_1108+132del | |
| ENST00000686409.1:n.2159+130_2159+132del | ||
| ENST00000686455.1:n.1471+130_1471+132del | ||
| ENST00000686479.1:n.1609_1611del | ||
| ENST00000686762.1:c.1108+130_1108+132del | ENSP00000509767.1:n.1108+130_1108+132del | |
| ENST00000687257.1:n.1344+130_1344+132del | ||
| ENST00000687326.1:c.1108+130_1108+132del | ENSP00000509665.1:n.1108+130_1108+132del | |
| ENST00000687486.1:c.300+130_300+132del | ||
| ENST00000687505.1:n.1226+130_1226+132del | ||
| ENST00000687923.1:c.997+142_997+144del | ENSP00000510255.1:n.997+142_997+144del | |
| ENST00000687940.1:n.1485+130_1485+132del | ||
| ENST00000688269.1:n.1704+130_1704+132del | ||
| ENST00000688326.1:c.428+130_428+132del | ||
| ENST00000688444.1:n.1434+130_1434+132del | ||
| ENST00000688543.1:c.1009+130_1009+132del | ENSP00000509612.1:n.1009+130_1009+132del | |
| ENST00000688625.1:c.*686+130_*686+132del | ENSP00000509522.1:n.*686+130_*686+132del | |
| ENST00000688803.1:n.1339+130_1339+132del | ||
| ENST00000688914.1:n.94+130_94+132del | ||
| ENST00000689097.1:c.*785+130_*785+132del | ENSP00000509756.1:n.*785+130_*785+132del | |
| ENST00000689389.1:c.1108+130_1108+132del | ENSP00000510213.1:n.1108+130_1108+132del | |
| ENST00000689418.1:c.*785+130_*785+132del | ENSP00000509467.1:n.*785+130_*785+132del | |
| ENST00000689481.1:c.*785+130_*785+132del | ENSP00000510248.1:n.*785+130_*785+132del | |
| ENST00000689540.1:n.1258+130_1258+132del | ||
| ENST00000689876.1:c.1108+130_1108+132del | ENSP00000508535.1:n.1108+130_1108+132del | |
| ENST00000689914.1:c.1108+130_1108+132del | ENSP00000509847.1:n.1108+130_1108+132del | |
| ENST00000690397.1:c.997+130_997+132del | ENSP00000508730.1:n.997+130_997+132del | |
| ENST00000690460.1:c.1096+130_1096+132del | ENSP00000509106.1:n.1096+130_1096+132del | |
| ENST00000690625.1:n.1411+130_1411+132del | ||
| ENST00000691396.1:c.*901+130_*901+132del | ENSP00000510712.1:n.*901+130_*901+132del | |
| ENST00000691724.1:c.*65+130_*65+132del | ENSP00000509255.1:n.*65+130_*65+132del | |
| ENST00000691779.1:c.*686+130_*686+132del | ENSP00000508592.1:n.*686+130_*686+132del | |
| ENST00000691899.1:c.1108+130_1108+132del | ENSP00000508763.1:n.1108+130_1108+132del | |
| ENST00000692069.1:n.1674+130_1674+132del | ||
| ENST00000692093.1:c.1009+130_1009+132del | ENSP00000509669.1:n.1009+130_1009+132del | |
| ENST00000692311.1:n.1932+130_1932+132del | ||
| ENST00000692558.1:n.1473+130_1473+132del | ||
| ENST00000692773.1:c.*845+130_*845+132del | ENSP00000509055.1:n.*845+130_*845+132del | |
| ENST00000692830.1:c.*853+130_*853+132del | ENSP00000509461.1:n.*853+130_*853+132del | |
| ENST00000693069.1:c.1009+130_1009+132del | ENSP00000510072.1:n.1009+130_1009+132del | |
| ENST00000693312.1:c.883+130_883+132del | ENSP00000508686.1:n.883+130_883+132del | |
| ENST00000693664.1:c.1108+130_1108+132del | ENSP00000509614.1:n.1108+130_1108+132del | |
| ENST00000693705.1:c.*785+130_*785+132del | ENSP00000510697.1:n.*785+130_*785+132del | |
| ENST00000251849.9:c.1108+130_1108+132del MANE Select | ENSP00000251849.4:n.1108+130_1108+132del | |
| ENST00000442415.7:c.1168+130_1168+132del | ENSP00000401888.2:n.1168+130_1168+132del | |
| ENST00000251849.8:c.1108+130_1108+132del | ENSP00000251849.4:n.1108+130_1108+132del | |
| ENST00000423275.5:c.*785+130_*785+132del | ENSP00000401088.1:n.*785+130_*785+132del | |
| ENST00000432427.2:c.745+130_745+132del | ENSP00000398591.2:n.745+130_745+132del | |
| ENST00000442415.6:c.1168+130_1168+132del | ENSP00000401888.2:n.1168+130_1168+132del | |
| ENST00000460610.1:n.65+130_65+132del | ||
| ENST00000465826.5:n.352+130_352+132del | ||
| NM_002880.3:c.1108+130_1108+132del , LRG_413t1:c.1108+130_1108+132del | NP_002871.1:n.1108+130_1108+132del | |
| XM_005265355.1:c.1108+130_1108+132del | XP_005265412.1:n.1108+130_1108+132del | |
| XM_005265357.1:c.1009+130_1009+132del | XP_005265414.1:n.1009+130_1009+132del | |
| XM_005265358.3:c.865+130_865+132del | XP_005265415.1:n.865+130_865+132del | |
| XM_005265359.3:c.766+130_766+132del | XP_005265416.1:n.766+130_766+132del | |
| XM_005265360.1:c.1108+130_1108+132del | XP_005265417.1:n.1108+130_1108+132del | |
| XM_011533974.1:c.1108+130_1108+132del | XP_011532276.1:n.1108+130_1108+132del | |
| XM_011533975.1:c.865+130_865+132del | XP_011532277.1:n.865+130_865+132del | |
| NM_001354689.1:c.1168+130_1168+132del | NP_001341618.1:n.1168+130_1168+132del | |
| NM_001354690.1:c.1108+130_1108+132del | NP_001341619.1:n.1108+130_1108+132del | |
| NM_001354691.1:c.865+130_865+132del | NP_001341620.1:n.865+130_865+132del | |
| NM_001354692.1:c.865+130_865+132del | NP_001341621.1:n.865+130_865+132del | |
| NM_001354693.1:c.1009+130_1009+132del | NP_001341622.1:n.1009+130_1009+132del | |
| NM_001354694.1:c.925+130_925+132del | NP_001341623.1:n.925+130_925+132del | |
| NM_001354695.1:c.766+130_766+132del | NP_001341624.1:n.766+130_766+132del | |
| NR_148940.1:n.1523+130_1523+132del | ||
| NR_148941.1:n.1523+130_1523+132del | ||
| NR_148942.1:n.1521+130_1521+132del | ||
| XM_011533974.3:c.1108+130_1108+132del | XP_011532276.1:n.1108+130_1108+132del | |
| XM_017006966.1:c.1009+130_1009+132del | XP_016862455.1:n.1009+130_1009+132del | |
| XR_001740227.1:n.1340+130_1340+132del | ||
| NM_001354689.3:c.1168+130_1168+132del | NP_001341618.1:n.1168+130_1168+132del | |
| NM_001354690.2:c.1108+130_1108+132del | NP_001341619.1:n.1108+130_1108+132del | |
| NM_001354691.2:c.865+130_865+132del | NP_001341620.1:n.865+130_865+132del | |
| NM_001354692.2:c.865+130_865+132del | NP_001341621.1:n.865+130_865+132del | |
| NM_001354693.2:c.1009+130_1009+132del | NP_001341622.1:n.1009+130_1009+132del | |
| NM_001354694.2:c.925+130_925+132del | NP_001341623.1:n.925+130_925+132del | |
| NM_001354695.2:c.766+130_766+132del | NP_001341624.1:n.766+130_766+132del | |
| NR_148940.2:n.1439+130_1439+132del | ||
| NR_148941.2:n.1439+130_1439+132del | ||
| NR_148942.2:n.1437+130_1437+132del | ||
| NM_001354690.3:c.1108+130_1108+132del | NP_001341619.1:n.1108+130_1108+132del | |
| NM_001354691.3:c.865+130_865+132del | NP_001341620.1:n.865+130_865+132del | |
| NM_001354692.3:c.865+130_865+132del | NP_001341621.1:n.865+130_865+132del | |
| NM_001354693.3:c.1009+130_1009+132del | NP_001341622.1:n.1009+130_1009+132del | |
| NM_001354694.3:c.925+130_925+132del | NP_001341623.1:n.925+130_925+132del | |
| NM_001354695.3:c.766+130_766+132del | NP_001341624.1:n.766+130_766+132del | |
| NM_002880.4:c.1108+130_1108+132del MANE Select | NP_002871.1:n.1108+130_1108+132del | |
| NR_148940.3:n.1439+130_1439+132del | ||
| NR_148941.3:n.1439+130_1439+132del | ||
| NR_148942.3:n.1437+130_1437+132del |