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:
3-12599564-GTATGTAAGGGAGAGTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12599565_12599580del , CM000665.2:g.12599565_12599580del | GRCh38 |
| NC_000003.11:g.12641064_12641079del , CM000665.1:g.12641064_12641079del | GRCh37 |
| NC_000003.10:g.12616064_12616079del | NCBI36 |
| NG_007467.1:g.69600_69615del , LRG_413:g.69600_69615del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*773+111_*773+126del | ENSP00000401088.1:n.*773+111_*773+126del | |
| ENST00000432427.3:c.428+111_428+126del | ||
| ENST00000465826.6:n.699+111_699+126del | ||
| ENST00000491290.2:n.1485+111_1485+126del | ||
| ENST00000684903.1:c.*785+111_*785+126del | ENSP00000508612.1:n.*785+111_*785+126del | |
| ENST00000685348.1:c.*785+111_*785+126del | ENSP00000510285.1:n.*785+111_*785+126del | |
| ENST00000685437.1:c.1009+111_1009+126del | ENSP00000508794.1:n.1009+111_1009+126del | |
| ENST00000685653.1:c.1108+111_1108+126del | ENSP00000509968.1:n.1108+111_1108+126del | |
| ENST00000685738.1:c.1108+111_1108+126del | ENSP00000510156.1:n.1108+111_1108+126del | |
| ENST00000686409.1:n.2159+111_2159+126del | ||
| ENST00000686455.1:n.1471+111_1471+126del | ||
| ENST00000686479.1:n.1590_1605del | ||
| ENST00000686762.1:c.1108+111_1108+126del | ENSP00000509767.1:n.1108+111_1108+126del | |
| ENST00000687257.1:n.1344+111_1344+126del | ||
| ENST00000687326.1:c.1108+111_1108+126del | ENSP00000509665.1:n.1108+111_1108+126del | |
| ENST00000687486.1:c.300+111_300+126del | ||
| ENST00000687505.1:n.1226+111_1226+126del | ||
| ENST00000687923.1:c.997+123_997+138del | ENSP00000510255.1:n.997+123_997+138del | |
| ENST00000687940.1:n.1485+111_1485+126del | ||
| ENST00000688269.1:n.1704+111_1704+126del | ||
| ENST00000688326.1:c.428+111_428+126del | ||
| ENST00000688444.1:n.1434+111_1434+126del | ||
| ENST00000688543.1:c.1009+111_1009+126del | ENSP00000509612.1:n.1009+111_1009+126del | |
| ENST00000688625.1:c.*686+111_*686+126del | ENSP00000509522.1:n.*686+111_*686+126del | |
| ENST00000688803.1:n.1339+111_1339+126del | ||
| ENST00000688914.1:n.94+111_94+126del | ||
| ENST00000689097.1:c.*785+111_*785+126del | ENSP00000509756.1:n.*785+111_*785+126del | |
| ENST00000689389.1:c.1108+111_1108+126del | ENSP00000510213.1:n.1108+111_1108+126del | |
| ENST00000689418.1:c.*785+111_*785+126del | ENSP00000509467.1:n.*785+111_*785+126del | |
| ENST00000689481.1:c.*785+111_*785+126del | ENSP00000510248.1:n.*785+111_*785+126del | |
| ENST00000689540.1:n.1258+111_1258+126del | ||
| ENST00000689876.1:c.1108+111_1108+126del | ENSP00000508535.1:n.1108+111_1108+126del | |
| ENST00000689914.1:c.1108+111_1108+126del | ENSP00000509847.1:n.1108+111_1108+126del | |
| ENST00000690397.1:c.997+111_997+126del | ENSP00000508730.1:n.997+111_997+126del | |
| ENST00000690460.1:c.1096+111_1096+126del | ENSP00000509106.1:n.1096+111_1096+126del | |
| ENST00000690625.1:n.1411+111_1411+126del | ||
| ENST00000691396.1:c.*901+111_*901+126del | ENSP00000510712.1:n.*901+111_*901+126del | |
| ENST00000691724.1:c.*65+111_*65+126del | ENSP00000509255.1:n.*65+111_*65+126del | |
| ENST00000691779.1:c.*686+111_*686+126del | ENSP00000508592.1:n.*686+111_*686+126del | |
| ENST00000691899.1:c.1108+111_1108+126del | ENSP00000508763.1:n.1108+111_1108+126del | |
| ENST00000692069.1:n.1674+111_1674+126del | ||
| ENST00000692093.1:c.1009+111_1009+126del | ENSP00000509669.1:n.1009+111_1009+126del | |
| ENST00000692311.1:n.1932+111_1932+126del | ||
| ENST00000692558.1:n.1473+111_1473+126del | ||
| ENST00000692773.1:c.*845+111_*845+126del | ENSP00000509055.1:n.*845+111_*845+126del | |
| ENST00000692830.1:c.*853+111_*853+126del | ENSP00000509461.1:n.*853+111_*853+126del | |
| ENST00000693069.1:c.1009+111_1009+126del | ENSP00000510072.1:n.1009+111_1009+126del | |
| ENST00000693312.1:c.883+111_883+126del | ENSP00000508686.1:n.883+111_883+126del | |
| ENST00000693664.1:c.1108+111_1108+126del | ENSP00000509614.1:n.1108+111_1108+126del | |
| ENST00000693705.1:c.*785+111_*785+126del | ENSP00000510697.1:n.*785+111_*785+126del | |
| ENST00000251849.9:c.1108+111_1108+126del MANE Select | ENSP00000251849.4:n.1108+111_1108+126del | |
| ENST00000442415.7:c.1168+111_1168+126del | ENSP00000401888.2:n.1168+111_1168+126del | |
| ENST00000251849.8:c.1108+111_1108+126del | ENSP00000251849.4:n.1108+111_1108+126del | |
| ENST00000423275.5:c.*785+111_*785+126del | ENSP00000401088.1:n.*785+111_*785+126del | |
| ENST00000432427.2:c.745+111_745+126del | ENSP00000398591.2:n.745+111_745+126del | |
| ENST00000442415.6:c.1168+111_1168+126del | ENSP00000401888.2:n.1168+111_1168+126del | |
| ENST00000460610.1:n.65+111_65+126del | ||
| ENST00000465826.5:n.352+111_352+126del | ||
| NM_002880.3:c.1108+111_1108+126del , LRG_413t1:c.1108+111_1108+126del | NP_002871.1:n.1108+111_1108+126del | |
| XM_005265355.1:c.1108+111_1108+126del | XP_005265412.1:n.1108+111_1108+126del | |
| XM_005265357.1:c.1009+111_1009+126del | XP_005265414.1:n.1009+111_1009+126del | |
| XM_005265358.3:c.865+111_865+126del | XP_005265415.1:n.865+111_865+126del | |
| XM_005265359.3:c.766+111_766+126del | XP_005265416.1:n.766+111_766+126del | |
| XM_005265360.1:c.1108+111_1108+126del | XP_005265417.1:n.1108+111_1108+126del | |
| XM_011533974.1:c.1108+111_1108+126del | XP_011532276.1:n.1108+111_1108+126del | |
| XM_011533975.1:c.865+111_865+126del | XP_011532277.1:n.865+111_865+126del | |
| NM_001354689.1:c.1168+111_1168+126del | NP_001341618.1:n.1168+111_1168+126del | |
| NM_001354690.1:c.1108+111_1108+126del | NP_001341619.1:n.1108+111_1108+126del | |
| NM_001354691.1:c.865+111_865+126del | NP_001341620.1:n.865+111_865+126del | |
| NM_001354692.1:c.865+111_865+126del | NP_001341621.1:n.865+111_865+126del | |
| NM_001354693.1:c.1009+111_1009+126del | NP_001341622.1:n.1009+111_1009+126del | |
| NM_001354694.1:c.925+111_925+126del | NP_001341623.1:n.925+111_925+126del | |
| NM_001354695.1:c.766+111_766+126del | NP_001341624.1:n.766+111_766+126del | |
| NR_148940.1:n.1523+111_1523+126del | ||
| NR_148941.1:n.1523+111_1523+126del | ||
| NR_148942.1:n.1521+111_1521+126del | ||
| XM_011533974.3:c.1108+111_1108+126del | XP_011532276.1:n.1108+111_1108+126del | |
| XM_017006966.1:c.1009+111_1009+126del | XP_016862455.1:n.1009+111_1009+126del | |
| XR_001740227.1:n.1340+111_1340+126del | ||
| NM_001354689.3:c.1168+111_1168+126del | NP_001341618.1:n.1168+111_1168+126del | |
| NM_001354690.2:c.1108+111_1108+126del | NP_001341619.1:n.1108+111_1108+126del | |
| NM_001354691.2:c.865+111_865+126del | NP_001341620.1:n.865+111_865+126del | |
| NM_001354692.2:c.865+111_865+126del | NP_001341621.1:n.865+111_865+126del | |
| NM_001354693.2:c.1009+111_1009+126del | NP_001341622.1:n.1009+111_1009+126del | |
| NM_001354694.2:c.925+111_925+126del | NP_001341623.1:n.925+111_925+126del | |
| NM_001354695.2:c.766+111_766+126del | NP_001341624.1:n.766+111_766+126del | |
| NR_148940.2:n.1439+111_1439+126del | ||
| NR_148941.2:n.1439+111_1439+126del | ||
| NR_148942.2:n.1437+111_1437+126del | ||
| NM_001354690.3:c.1108+111_1108+126del | NP_001341619.1:n.1108+111_1108+126del | |
| NM_001354691.3:c.865+111_865+126del | NP_001341620.1:n.865+111_865+126del | |
| NM_001354692.3:c.865+111_865+126del | NP_001341621.1:n.865+111_865+126del | |
| NM_001354693.3:c.1009+111_1009+126del | NP_001341622.1:n.1009+111_1009+126del | |
| NM_001354694.3:c.925+111_925+126del | NP_001341623.1:n.925+111_925+126del | |
| NM_001354695.3:c.766+111_766+126del | NP_001341624.1:n.766+111_766+126del | |
| NM_002880.4:c.1108+111_1108+126del MANE Select | NP_002871.1:n.1108+111_1108+126del | |
| NR_148940.3:n.1439+111_1439+126del | ||
| NR_148941.3:n.1439+111_1439+126del | ||
| NR_148942.3:n.1437+111_1437+126del |