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:
rs1835098057
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128222738_128222739insAGG , CM000671.2:g.128222738_128222739insAGG | GRCh38 |
| NC_000009.11:g.130985017_130985018insAGG , CM000671.1:g.130985017_130985018insAGG | GRCh37 |
| NC_000009.10:g.130024838_130024839insAGG | NCBI36 |
| NG_029726.1:g.24355_24356insAGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706053.1:c.1129-55_1129-54insAGG | ENSP00000516205.1:n.1129-55_1129-54insAGG... | |
| ENST00000706054.1:c.764-55_764-54insAGG | ||
| ENST00000372923.8:c.1129-55_1129-54insAGG MANE Select | ENSP00000362014.4:n.1129-55_1129-54insAGG... | |
| ENST00000634267.2:c.1129-55_1129-54insAGG | ENSP00000489096.1:n.1129-55_1129-54insAGG... | |
| ENST00000636280.1:c.*273-55_*273-54insAGG | ENSP00000490285.1:n.*273-55_*273-54insAGG... | |
| ENST00000637999.1:c.956-55_956-54insAGG | ||
| ENST00000341179.11:c.1129-55_1129-54insAGG | ENSP00000345680.7:n.1129-55_1129-54insAGG... | |
| ENST00000372923.7:c.1129-55_1129-54insAGG | ENSP00000362014.3:n.1129-55_1129-54insAGG... | |
| ENST00000393594.7:c.1129-55_1129-54insAGG | ENSP00000377219.3:n.1129-55_1129-54insAGG... | |
| ENST00000441149.6:n.930-55_930-54insAGG | ||
| ENST00000475805.5:c.1129-55_1129-54insAGG | ENSP00000419225.1:n.1129-55_1129-54insAGG... | |
| ENST00000482638.6:c.69-55_69-54insAGG | ||
| ENST00000486160.3:c.1129-55_1129-54insAGG | ENSP00000420045.1:n.1129-55_1129-54insAGG... | |
| ENST00000627061.2:c.1129-55_1129-54insAGG | ENSP00000486437.1:n.1129-55_1129-54insAGG... | |
| ENST00000627543.2:c.1129-55_1129-54insAGG | ENSP00000487310.1:n.1129-55_1129-54insAGG... | |
| ENST00000628346.2:c.1129-55_1129-54insAGG | ENSP00000486525.1:n.1129-55_1129-54insAGG... | |
| ENST00000634267.1:c.1129-55_1129-54insAGG | ENSP00000489096.1:n.1129-55_1129-54insAGG... | |
| NM_001005336.2:c.1129-55_1129-54insAGG | NP_001005336.1:n.1129-55_1129-54insAGG | |
| NM_001288737.1:c.1129-55_1129-54insAGG | NP_001275666.1:n.1129-55_1129-54insAGG | |
| NM_001288738.1:c.1129-55_1129-54insAGG | NP_001275667.1:n.1129-55_1129-54insAGG | |
| NM_001288739.1:c.1129-55_1129-54insAGG | NP_001275668.1:n.1129-55_1129-54insAGG | |
| NM_004408.3:c.1129-55_1129-54insAGG | NP_004399.2:n.1129-55_1129-54insAGG | |
| XM_005251763.1:c.1129-55_1129-54insAGG | XP_005251820.1:n.1129-55_1129-54insAGG | |
| XM_005251764.1:c.1129-55_1129-54insAGG | XP_005251821.1:n.1129-55_1129-54insAGG | |
| XM_005251768.1:c.1129-55_1129-54insAGG | XP_005251825.1:n.1129-55_1129-54insAGG | |
| XM_005251769.1:c.1129-55_1129-54insAGG | XP_005251826.1:n.1129-55_1129-54insAGG | |
| XM_006716992.1:c.1129-55_1129-54insAGG | XP_006717055.1:n.1129-55_1129-54insAGG | |
| XM_006716993.1:c.1129-55_1129-54insAGG | XP_006717056.1:n.1129-55_1129-54insAGG | |
| XM_011518334.1:c.1129-55_1129-54insAGG | XP_011516636.1:n.1129-55_1129-54insAGG | |
| XM_011518335.1:c.1129-55_1129-54insAGG | XP_011516637.1:n.1129-55_1129-54insAGG | |
| XM_011518336.1:c.1129-55_1129-54insAGG | XP_011516638.1:n.1129-55_1129-54insAGG | |
| XM_011518337.1:c.1129-55_1129-54insAGG | XP_011516639.1:n.1129-55_1129-54insAGG | |
| XM_011518338.1:c.1129-55_1129-54insAGG | XP_011516640.1:n.1129-55_1129-54insAGG | |
| XR_242572.1:n.1245-55_1245-54insAGG | ||
| XR_242573.2:n.1245-55_1245-54insAGG | ||
| XR_929729.1:n.1245-55_1245-54insAGG | ||
| XR_929730.1:n.1245-55_1245-54insAGG | ||
| XM_005251763.3:c.1129-55_1129-54insAGG | XP_005251820.1:n.1129-55_1129-54insAGG | |
| XM_005251768.3:c.1129-55_1129-54insAGG | XP_005251825.1:n.1129-55_1129-54insAGG | |
| XM_005251769.3:c.1129-55_1129-54insAGG | XP_005251826.1:n.1129-55_1129-54insAGG | |
| XM_006716992.3:c.1129-55_1129-54insAGG | XP_006717055.1:n.1129-55_1129-54insAGG | |
| XM_006716993.2:c.1129-55_1129-54insAGG | XP_006717056.1:n.1129-55_1129-54insAGG | |
| XM_011518335.3:c.1129-55_1129-54insAGG | XP_011516637.1:n.1129-55_1129-54insAGG | |
| XM_011518336.3:c.1129-55_1129-54insAGG | XP_011516638.1:n.1129-55_1129-54insAGG | |
| XM_017014369.2:c.1129-55_1129-54insAGG | XP_016869858.1:n.1129-55_1129-54insAGG | |
| XM_017014370.2:c.1129-55_1129-54insAGG | XP_016869859.1:n.1129-55_1129-54insAGG | |
| XM_017014371.2:c.1129-55_1129-54insAGG | XP_016869860.1:n.1129-55_1129-54insAGG | |
| XM_017014372.2:c.1129-55_1129-54insAGG | XP_016869861.1:n.1129-55_1129-54insAGG | |
| XM_017014373.2:c.1129-55_1129-54insAGG | XP_016869862.1:n.1129-55_1129-54insAGG | |
| XR_001746219.2:n.1221-55_1221-54insAGG | ||
| XR_001746220.2:n.1221-55_1221-54insAGG | ||
| XR_001746221.2:n.1221-55_1221-54insAGG | ||
| XR_001746222.2:n.1221-55_1221-54insAGG | ||
| NM_001005336.3:c.1129-55_1129-54insAGG | NP_001005336.1:n.1129-55_1129-54insAGG | |
| NM_001288737.2:c.1129-55_1129-54insAGG | NP_001275666.1:n.1129-55_1129-54insAGG | |
| NM_001288738.2:c.1129-55_1129-54insAGG | NP_001275667.1:n.1129-55_1129-54insAGG | |
| NM_001288739.2:c.1129-55_1129-54insAGG | NP_001275668.1:n.1129-55_1129-54insAGG | |
| NM_001374269.1:c.1129-55_1129-54insAGG | NP_001361198.1:n.1129-55_1129-54insAGG | |
| NM_004408.4:c.1129-55_1129-54insAGG MANE Select | NP_004399.2:n.1129-55_1129-54insAGG |