WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs1886326941
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23563772_23563773insAATCT , CM000676.2:g.23563772_23563773insAATCT | GRCh38 |
| NC_000014.8:g.24032981_24032982insAATCT , CM000676.1:g.24032981_24032982insAATCT | GRCh37 |
| NC_000014.7:g.23102821_23102822insAATCT | NCBI36 |
| NG_011937.1:g.9298_9299insAGATT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397120.8:c.1175_1176insAGATT (AP1G2) MANE Select | ENSP00000380309.3:p.Cys393AspfsTer30 | |
| ENST00000308724.9:c.1175_1176insAGATT (AP1G2) | ENSP00000312442.5:p.Cys393AspfsTer30 | |
| ENST00000397120.7:c.1175_1176insAGATT (AP1G2) | ENSP00000380309.3:p.Cys393AspfsTer30 | |
| ENST00000460049.6:n.1348_1349insAGATT (AP1G2) | ||
| ENST00000465445.6:n.1234_1235insAGATT (AP1G2) | ||
| ENST00000535852.6:n.1115_1116insAGATT (AP1G2) | ||
| ENST00000554554.5:n.177_178insAGATT (AP1G2) | ||
| ENST00000554977.1:n.492_493insAGATT (AP1G2) | ||
| ENST00000554982.5:n.81_82insAGATT (AP1G2) | ||
| ENST00000555118.1:n.19_20insAGATT (AP1G2) | ||
| ENST00000555789.5:n.124_125insAGATT (AP1G2) | ||
| ENST00000555974.1:n.130_131insAGATT (AP1G2) | ||
| ENST00000556741.5:n.134_135insAGATT (AP1G2) | ||
| ENST00000557162.1:c.324_325insAGATT (AP1G2) | ||
| NM_001282474.1:c.32_33insAGATT (AP1G2) | NP_001269403.1:p.Cys12AspfsTer30 | |
| NM_001282475.1:c.959_960insAGATT (AP1G2) | NP_001269404.1:p.Cys321AspfsTer30 | |
| NM_003917.4:c.1175_1176insAGATT (AP1G2) | NP_003908.1:p.Cys393AspfsTer30 | |
| NR_110555.1:n.778-955_778-954insAATCT (AP1G2-AS1) | ||
| XM_005268167.2:c.1346_1347insAGATT (AP1G2) | XP_005268224.1:p.Cys450AspfsTer30 | |
| XM_005268168.3:c.1346_1347insAGATT (AP1G2) | XP_005268225.1:p.Cys450AspfsTer30 | |
| XM_005268169.2:c.1346_1347insAGATT (AP1G2) | XP_005268226.1:p.Cys450AspfsTer30 | |
| XM_005268170.2:c.1346_1347insAGATT (AP1G2) | XP_005268227.1:p.Cys450AspfsTer30 | |
| XM_005268172.2:c.1175_1176insAGATT (AP1G2) | XP_005268229.1:p.Cys393AspfsTer30 | |
| XM_005268173.2:c.1175_1176insAGATT (AP1G2) | XP_005268230.1:p.Cys393AspfsTer30 | |
| XM_005268174.2:c.959_960insAGATT (AP1G2) | XP_005268231.1:p.Cys321AspfsTer30 | |
| XM_005268175.2:c.959_960insAGATT (AP1G2) | XP_005268232.1:p.Cys321AspfsTer30 | |
| XM_005268177.2:c.788_789insAGATT (AP1G2) | XP_005268234.1:p.Cys264AspfsTer30 | |
| XM_005268178.2:c.788_789insAGATT (AP1G2) | XP_005268235.1:p.Cys264AspfsTer30 | |
| XM_005268179.2:c.788_789insAGATT (AP1G2) | XP_005268236.1:p.Cys264AspfsTer30 | |
| XM_005268180.3:c.740_741insAGATT (AP1G2) | XP_005268237.1:p.Cys248AspfsTer30 | |
| XM_005268181.2:c.1448_1449insAGATT (AP1G2) | XP_005268238.1:p.Cys484AspfsTer30 | |
| XM_005268182.2:c.545_546insAGATT (AP1G2) | XP_005268239.1:p.Cys183AspfsTer30 | |
| XM_006720301.2:c.1346_1347insAGATT (AP1G2) | XP_006720364.1:p.Cys450AspfsTer30 | |
| XM_011537282.1:c.1346_1347insAGATT (AP1G2) | XP_011535584.1:p.Cys450AspfsTer30 | |
| XM_011537283.1:c.1346_1347insAGATT (AP1G2) | XP_011535585.1:p.Cys450AspfsTer30 | |
| XM_011537284.1:c.1448_1449insAGATT (AP1G2) | XP_011535586.1:p.Cys484AspfsTer30 | |
| XM_011537285.1:c.1448_1449insAGATT (AP1G2) | XP_011535587.1:p.Cys484AspfsTer30 | |
| XM_011537286.1:c.32_33insAGATT (AP1G2) | XP_011535588.1:p.Cys12AspfsTer30 | |
| XR_943550.1:n.1347_1348insAGATT (AP1G2) | ||
| XR_943551.1:n.1487_1488insAGATT (AP1G2) | ||
| XR_943552.1:n.1487_1488insAGATT (AP1G2) | ||
| XR_943553.1:n.1347_1348insAGATT (AP1G2) | ||
| XR_943554.1:n.1598_1599insAGATT (AP1G2) | ||
| XR_943555.1:n.1409_1410insAGATT (AP1G2) | ||
| NM_001354673.1:c.788_789insAGATT (AP1G2) | NP_001341602.1:p.Cys264AspfsTer30 | |
| NM_001354674.1:c.32_33insAGATT (AP1G2) | NP_001341603.1:p.Cys12AspfsTer30 | |
| NM_001354675.1:c.32_33insAGATT (AP1G2) | NP_001341604.1:p.Cys12AspfsTer30 | |
| NM_001354677.1:c.32_33insAGATT (AP1G2) | NP_001341606.1:p.Cys12AspfsTer30 | |
| NM_001354681.1:c.32_33insAGATT (AP1G2) | NP_001341610.1:p.Cys12AspfsTer30 | |
| NR_148937.1:n.1603_1604insAGATT (AP1G2) | ||
| NR_148938.1:n.1404_1405insAGATT (AP1G2) | ||
| XM_005268167.3:c.1346_1347insAGATT (AP1G2) | XP_005268224.1:p.Cys450AspfsTer30 | |
| XM_005268168.5:c.1346_1347insAGATT (AP1G2) | XP_005268225.1:p.Cys450AspfsTer30 | |
| XM_005268169.3:c.1346_1347insAGATT (AP1G2) | XP_005268226.1:p.Cys450AspfsTer30 | |
| XM_005268170.3:c.1346_1347insAGATT (AP1G2) | XP_005268227.1:p.Cys450AspfsTer30 | |
| XM_005268172.3:c.1175_1176insAGATT (AP1G2) | XP_005268229.1:p.Cys393AspfsTer30 | |
| XM_005268173.3:c.1175_1176insAGATT (AP1G2) | XP_005268230.1:p.Cys393AspfsTer30 | |
| XM_005268174.3:c.959_960insAGATT (AP1G2) | XP_005268231.1:p.Cys321AspfsTer30 | |
| XM_005268175.3:c.959_960insAGATT (AP1G2) | XP_005268232.1:p.Cys321AspfsTer30 | |
| XM_005268178.4:c.788_789insAGATT (AP1G2) | XP_005268235.1:p.Cys264AspfsTer30 | |
| XM_005268179.3:c.788_789insAGATT (AP1G2) | XP_005268236.1:p.Cys264AspfsTer30 | |
| XM_005268180.4:c.740_741insAGATT (AP1G2) | XP_005268237.1:p.Cys248AspfsTer30 | |
| XM_005268182.3:c.545_546insAGATT (AP1G2) | XP_005268239.1:p.Cys183AspfsTer30 | |
| XM_006720301.3:c.1346_1347insAGATT (AP1G2) | XP_006720364.1:p.Cys450AspfsTer30 | |
| XM_011537283.3:c.1346_1347insAGATT (AP1G2) | XP_011535585.1:p.Cys450AspfsTer30 | |
| XM_017021740.1:c.1346_1347insAGATT (AP1G2) | XP_016877229.1:p.Cys450AspfsTer30 | |
| XM_017021741.1:c.1205_1206insAGATT (AP1G2) | XP_016877230.1:p.Cys403AspfsTer30 | |
| XM_017021742.2:c.959_960insAGATT (AP1G2) | XP_016877231.1:p.Cys321AspfsTer30 | |
| XM_017021745.1:c.1175_1176insAGATT (AP1G2) | XP_016877234.1:p.Cys393AspfsTer30 | |
| XM_024449738.1:c.32_33insAGATT (AP1G2) | XP_024305506.1:p.Cys12AspfsTer30 | |
| XR_001750583.2:n.1347_1348insAGATT (AP1G2) | ||
| XR_001750584.2:n.1347_1348insAGATT (AP1G2) | ||
| XR_001750586.1:n.1347_1348insAGATT (AP1G2) | ||
| XR_001750587.1:n.1347_1348insAGATT (AP1G2) | ||
| XR_001750588.2:n.1800_1801insAGATT (AP1G2) | ||
| XR_001750589.1:n.1598_1599insAGATT (AP1G2) | ||
| XR_001750590.2:n.1409_1410insAGATT (AP1G2) | ||
| XR_002957567.1:n.1347_1348insAGATT (AP1G2) | ||
| XR_002957568.1:n.1316_1317insAGATT (AP1G2) | ||
| XR_002957569.1:n.1230_1231insAGATT (AP1G2) | ||
| XR_002957570.1:n.1598_1599insAGATT (AP1G2) | ||
| NM_001282474.2:c.32_33insAGATT (AP1G2) | NP_001269403.1:p.Cys12AspfsTer30 | |
| NM_001282475.2:c.959_960insAGATT (AP1G2) | NP_001269404.1:p.Cys321AspfsTer30 | |
| NM_001354673.2:c.788_789insAGATT (AP1G2) | NP_001341602.1:p.Cys264AspfsTer30 | |
| NM_001354674.2:c.32_33insAGATT (AP1G2) | NP_001341603.1:p.Cys12AspfsTer30 | |
| NM_001354675.2:c.32_33insAGATT (AP1G2) | NP_001341604.1:p.Cys12AspfsTer30 | |
| NM_001354677.2:c.32_33insAGATT (AP1G2) | NP_001341606.1:p.Cys12AspfsTer30 | |
| NM_001354681.2:c.32_33insAGATT (AP1G2) | NP_001341610.1:p.Cys12AspfsTer30 | |
| NM_003917.5:c.1175_1176insAGATT (AP1G2) MANE Select | NP_003908.1:p.Cys393AspfsTer30 | |
| NR_148937.2:n.1881_1882insAGATT (AP1G2) | ||
| NR_148938.2:n.1407_1408insAGATT (AP1G2) |