Linked Data
dbSNP Id:
rs1224076785
gnomAD v3:
1-113896388-AAAGTCCTCT-A
gnomAD v4:
1-113896388-AAAGTCCTCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113896391_113896399del , CM000663.2:g.113896391_113896399del | GRCh38 |
| NC_000001.10:g.114439013_114439021del , CM000663.1:g.114439013_114439021del | GRCh37 |
| NC_000001.9:g.114240536_114240544del | NCBI36 |
| NG_031901.1:g.13723_13731del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.1146_1154del (AP4B1) | ENSP00000358577.2:p.Leu382_Asp384del | |
| ENST00000369567.6:c.867_875del (AP4B1) | ENSP00000358580.1:p.Leu289_Asp291del | |
| ENST00000369571.3:c.1371_1379del (AP4B1) | ENSP00000358584.3:p.Leu457_Asp459del | |
| ENST00000432415.6:c.867_875del (AP4B1) | ENSP00000393622.2:p.Leu289_Asp291del | |
| ENST00000460653.2:c.*441_*449del (AP4B1) | ENSP00000518881.1:n.*441_*449del | |
| ENST00000484201.6:c.*121_*129del (AP4B1) | ENSP00000518883.1:n.*121_*129del | |
| ENST00000489499.6:c.*713_*721del (AP4B1) | ENSP00000518882.1:n.*713_*721del | |
| ENST00000713588.1:c.*482_*490del (AP4B1) | ENSP00000518880.1:n.*482_*490del | |
| ENST00000713590.1:c.1371_1379del (AP4B1) | ENSP00000518886.1:p.Leu457_Asp459del | |
| ENST00000369569.6:c.1371_1379del (AP4B1) MANE Select | ENSP00000358582.1:p.Leu457_Asp459del | |
| ENST00000256658.8:c.1371_1379del (AP4B1) | ENSP00000256658.4:p.Leu457_Asp459del | |
| ENST00000369567.5:c.867_875del (AP4B1) | ENSP00000358580.1:p.Leu289_Asp291del | |
| ENST00000369569.5:c.1371_1379del (AP4B1) | ENSP00000358582.1:p.Leu457_Asp459del | |
| ENST00000462591.1:n.1543_1551del (AP4B1) | ||
| ENST00000479285.5:n.599_607del (AP4B1) | ||
| ENST00000479801.1:n.205_213del (AP4B1) | ||
| ENST00000484201.5:n.933_941del (AP4B1) | ||
| NM_001253852.1:c.1371_1379del (AP4B1) | NP_001240781.1:p.Leu457_Asp459del | |
| NM_001253852.2:c.1371_1379del (AP4B1) | NP_001240781.1:p.Leu457_Asp459del | |
| NM_001253853.1:c.1074_1082del (AP4B1) | NP_001240782.1:p.Leu358_Asp360del | |
| NM_001253853.2:c.1074_1082del (AP4B1) | NP_001240782.1:p.Leu358_Asp360del | |
| NM_001308312.1:c.867_875del (AP4B1) | NP_001295241.1:p.Leu289_Asp291del | |
| NM_006594.3:c.1371_1379del (AP4B1) | NP_006585.2:p.Leu457_Asp459del | |
| NM_006594.4:c.1371_1379del (AP4B1) | NP_006585.2:p.Leu457_Asp459del | |
| NR_037864.1:n.247-1477_247-1469del (AP4B1-AS1) | ||
| NR_125965.1:n.415-1477_415-1469del (AP4B1-AS1) | ||
| XM_005270381.2:c.1199-359_1199-351del (AP4B1) | XP_005270438.1:n.1199-359_1199-351del | |
| XM_011540523.1:c.1146_1154del (AP4B1) | XP_011538825.1:p.Leu382_Asp384del | |
| XM_011540524.1:c.1146_1154del (AP4B1) | XP_011538826.1:p.Leu382_Asp384del | |
| XM_011540525.1:c.1092_1100del (AP4B1) | XP_011538827.1:p.Leu364_Asp366del | |
| XM_011540527.1:c.753_761del (AP4B1) | XP_011538829.1:p.Leu251_Asp253del | |
| XM_011540528.1:c.396_404del (AP4B1) | XP_011538830.1:p.Leu132_Asp134del | |
| XR_246227.1:n.1485-359_1485-351del (AP4B1) | ||
| XM_011540523.3:c.1146_1154del (AP4B1) | XP_011538825.1:p.Leu382_Asp384del | |
| XM_011540525.3:c.1092_1100del (AP4B1) | XP_011538827.1:p.Leu364_Asp366del | |
| XM_017000089.2:c.1199-359_1199-351del (AP4B1) | XP_016855578.1:n.1199-359_1199-351del | |
| XM_017000090.1:c.867_875del (AP4B1) | XP_016855579.1:p.Leu289_Asp291del | |
| XM_017000091.2:c.920-359_920-351del (AP4B1) | XP_016855580.1:n.920-359_920-351del | |
| XM_017000092.2:c.396_404del (AP4B1) | XP_016855581.1:p.Leu132_Asp134del | |
| XM_024452422.1:c.1092_1100del (AP4B1) | XP_024308190.1:p.Leu364_Asp366del | |
| XM_024452423.1:c.1199-359_1199-351del (AP4B1) | XP_024308191.1:n.1199-359_1199-351del | |
| XM_024452435.1:c.974-359_974-351del (AP4B1) | XP_024308203.1:n.974-359_974-351del | |
| XM_024452441.1:c.695-359_695-351del (AP4B1) | XP_024308209.1:n.695-359_695-351del | |
| XR_001736928.2:n.1801_1809del (AP4B1) | ||
| XR_001736930.2:n.1945_1953del (AP4B1) | ||
| XR_002958805.1:n.1505-359_1505-351del (AP4B1) | ||
| XR_002958806.1:n.1842_1850del (AP4B1) | ||
| XR_002958807.1:n.1681_1689del (AP4B1) | ||
| NM_001253852.3:c.1371_1379del (AP4B1) MANE Select | NP_001240781.1:p.Leu457_Asp459del | |
| NM_001253853.3:c.1074_1082del (AP4B1) | NP_001240782.1:p.Leu358_Asp360del | |
| NM_001308312.2:c.867_875del (AP4B1) | NP_001295241.1:p.Leu289_Asp291del | |
| NM_006594.5:c.1371_1379del (AP4B1) | NP_006585.2:p.Leu457_Asp459del |