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_000001.11:g.113898755_113898757delinsTGT , CM000663.2:g.113898755_113898757delinsTGT | GRCh38 |
| NC_000001.10:g.114441377_114441379delinsTGT , CM000663.1:g.114441377_114441379delinsTGT | GRCh37 |
| NC_000001.9:g.114242900_114242902delinsTGT | NCBI36 |
| NG_031901.1:g.11363_11365delinsACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.934_936delinsACA (AP4B1) | ENSP00000358577.2:p.Thr312= | |
| ENST00000369567.6:c.655_657delinsACA (AP4B1) | ENSP00000358580.1:p.Thr219= | |
| ENST00000369571.3:c.1159_1161delinsACA (AP4B1) | ENSP00000358584.3:p.Thr387= | |
| ENST00000432415.6:c.655_657delinsACA (AP4B1) | ENSP00000393622.2:p.Thr219= | |
| ENST00000460653.2:c.*229_*231delinsACA (AP4B1) | ENSP00000518881.1:n.*229_*231delinsACA | |
| ENST00000484201.6:c.530_532delinsACA (AP4B1) | ENSP00000518883.1:p.Asn177= | |
| ENST00000489499.6:c.*501_*503delinsACA (AP4B1) | ENSP00000518882.1:n.*501_*503delinsACA | |
| ENST00000713588.1:c.*270_*272delinsACA (AP4B1) | ENSP00000518880.1:n.*270_*272delinsACA | |
| ENST00000713590.1:c.1159_1161delinsACA (AP4B1) | ENSP00000518886.1:p.Thr387= | |
| ENST00000369569.6:c.1159_1161delinsACA (AP4B1) MANE Select | ENSP00000358582.1:p.Thr387= | |
| ENST00000256658.8:c.1159_1161delinsACA (AP4B1) | ENSP00000256658.4:p.Thr387= | |
| ENST00000369567.5:c.655_657delinsACA (AP4B1) | ENSP00000358580.1:p.Thr219= | |
| ENST00000369569.5:c.1159_1161delinsACA (AP4B1) | ENSP00000358582.1:p.Thr387= | |
| ENST00000479285.5:n.387_389delinsACA (AP4B1) | ||
| ENST00000484201.5:n.721_723delinsACA (AP4B1) | ||
| NM_001253852.1:c.1159_1161delinsACA (AP4B1) | NP_001240781.1:p.Thr387= | |
| NM_001253852.2:c.1159_1161delinsACA (AP4B1) | NP_001240781.1:p.Thr387= | |
| NM_001253853.1:c.862_864delinsACA (AP4B1) | NP_001240782.1:p.Thr288= | |
| NM_001253853.2:c.862_864delinsACA (AP4B1) | NP_001240782.1:p.Thr288= | |
| NM_001308312.1:c.655_657delinsACA (AP4B1) | NP_001295241.1:p.Thr219= | |
| NM_006594.3:c.1159_1161delinsACA (AP4B1) | NP_006585.2:p.Thr387= | |
| NM_006594.4:c.1159_1161delinsACA (AP4B1) | NP_006585.2:p.Thr387= | |
| NR_037864.1:n.368+766_368+768delinsTGT (AP4B1-AS1) | ||
| NR_125965.1:n.536+766_536+768delinsTGT (AP4B1-AS1) | ||
| XM_005270381.2:c.1159_1161delinsACA (AP4B1) | XP_005270438.1:p.Thr387= | |
| XM_005270382.3:c.1159_1161delinsACA (AP4B1) | XP_005270439.1:p.Thr387= | |
| XM_011540523.1:c.934_936delinsACA (AP4B1) | XP_011538825.1:p.Thr312= | |
| XM_011540524.1:c.934_936delinsACA (AP4B1) | XP_011538826.1:p.Thr312= | |
| XM_011540525.1:c.880_882delinsACA (AP4B1) | XP_011538827.1:p.Thr294= | |
| XM_011540527.1:c.541_543delinsACA (AP4B1) | XP_011538829.1:p.Thr181= | |
| XM_011540528.1:c.184_186delinsACA (AP4B1) | XP_011538830.1:p.Thr62= | |
| XR_246227.1:n.1341_1343delinsACA (AP4B1) | ||
| XR_246228.2:n.1569_1571delinsACA (AP4B1) | ||
| XM_011540523.3:c.934_936delinsACA (AP4B1) | XP_011538825.1:p.Thr312= | |
| XM_011540525.3:c.880_882delinsACA (AP4B1) | XP_011538827.1:p.Thr294= | |
| XM_017000089.2:c.1159_1161delinsACA (AP4B1) | XP_016855578.1:p.Thr387= | |
| XM_017000090.1:c.655_657delinsACA (AP4B1) | XP_016855579.1:p.Thr219= | |
| XM_017000091.2:c.880_882delinsACA (AP4B1) | XP_016855580.1:p.Thr294= | |
| XM_017000092.2:c.184_186delinsACA (AP4B1) | XP_016855581.1:p.Thr62= | |
| XM_017000093.2:c.1159_1161delinsACA (AP4B1) | XP_016855582.1:p.Thr387= | |
| XM_024452422.1:c.880_882delinsACA (AP4B1) | XP_024308190.1:p.Thr294= | |
| XM_024452423.1:c.1159_1161delinsACA (AP4B1) | XP_024308191.1:p.Thr387= | |
| XM_024452435.1:c.934_936delinsACA (AP4B1) | XP_024308203.1:p.Thr312= | |
| XM_024452441.1:c.655_657delinsACA (AP4B1) | XP_024308209.1:p.Thr219= | |
| XR_001736928.2:n.1589_1591delinsACA (AP4B1) | ||
| XR_001736930.2:n.1630_1632delinsACA (AP4B1) | ||
| XR_002958805.1:n.1361_1363delinsACA (AP4B1) | ||
| XR_002958806.1:n.1630_1632delinsACA (AP4B1) | ||
| XR_002958807.1:n.1469_1471delinsACA (AP4B1) | ||
| NM_001253852.3:c.1159_1161delinsACA (AP4B1) MANE Select | NP_001240781.1:p.Thr387= | |
| NM_001253853.3:c.862_864delinsACA (AP4B1) | NP_001240782.1:p.Thr288= | |
| NM_001308312.2:c.655_657delinsACA (AP4B1) | NP_001295241.1:p.Thr219= | |
| NM_006594.5:c.1159_1161delinsACA (AP4B1) | NP_006585.2:p.Thr387= |