Linked Data
ClinVar Variation Id:
156414
dbSNP Id:
rs587779388
ExAC:
1:114441376 CTG / C
gnomAD v2:
1-114441376-CTG-C
gnomAD v3:
1-113898754-CTG-C
gnomAD v4:
1-113898754-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113898756_113898757del , CM000663.2:g.113898756_113898757del | GRCh38 |
| NC_000001.10:g.114441378_114441379del , CM000663.1:g.114441378_114441379del | GRCh37 |
| NC_000001.9:g.114242901_114242902del | NCBI36 |
| NG_031901.1:g.11364_11365del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369564.6:c.935_936del (AP4B1) | ENSP00000358577.2:p.Thr312ArgfsTer30 | |
| ENST00000369567.6:c.656_657del (AP4B1) | ENSP00000358580.1:p.Thr219ArgfsTer30 | |
| ENST00000369571.3:c.1160_1161del (AP4B1) | ENSP00000358584.3:p.Thr387ArgfsTer30 | |
| ENST00000432415.6:c.656_657del (AP4B1) | ENSP00000393622.2:p.Thr219ArgfsTer30 | |
| ENST00000460653.2:c.*230_*231del (AP4B1) | ENSP00000518881.1:n.*230_*231del | |
| ENST00000484201.6:c.531_532del (AP4B1) | ENSP00000518883.1:p.Asn177LysfsTer? | |
| ENST00000489499.6:c.*502_*503del (AP4B1) | ENSP00000518882.1:n.*502_*503del | |
| ENST00000713588.1:c.*271_*272del (AP4B1) | ENSP00000518880.1:n.*271_*272del | |
| ENST00000713590.1:c.1160_1161del (AP4B1) | ENSP00000518886.1:p.Thr387ArgfsTer30 | |
| ENST00000369569.6:c.1160_1161del (AP4B1) MANE Select | ENSP00000358582.1:p.Thr387ArgfsTer30 | |
| ENST00000256658.8:c.1160_1161del (AP4B1) | ENSP00000256658.4:p.Thr387ArgfsTer30 | |
| ENST00000369567.5:c.656_657del (AP4B1) | ENSP00000358580.1:p.Thr219ArgfsTer30 | |
| ENST00000369569.5:c.1160_1161del (AP4B1) | ENSP00000358582.1:p.Thr387ArgfsTer30 | |
| ENST00000479285.5:n.388_389del (AP4B1) | ||
| ENST00000484201.5:n.722_723del (AP4B1) | ||
| NM_001253852.1:c.1160_1161del (AP4B1) | NP_001240781.1:p.Thr387ArgfsTer30 | |
| NM_001253852.2:c.1160_1161del (AP4B1) | NP_001240781.1:p.Thr387ArgfsTer30 | |
| NM_001253853.1:c.863_864del (AP4B1) | NP_001240782.1:p.Thr288ArgfsTer30 | |
| NM_001253853.2:c.863_864del (AP4B1) | NP_001240782.1:p.Thr288ArgfsTer30 | |
| NM_001308312.1:c.656_657del (AP4B1) | NP_001295241.1:p.Thr219ArgfsTer30 | |
| NM_006594.3:c.1160_1161del (AP4B1) | NP_006585.2:p.Thr387ArgfsTer30 | |
| NM_006594.4:c.1160_1161del (AP4B1) | NP_006585.2:p.Thr387ArgfsTer30 | |
| NR_037864.1:n.368+767_368+768del (AP4B1-AS1) | ||
| NR_125965.1:n.536+767_536+768del (AP4B1-AS1) | ||
| XM_005270381.2:c.1160_1161del (AP4B1) | XP_005270438.1:p.Thr387ArgfsTer? | |
| XM_005270382.3:c.1160_1161del (AP4B1) | XP_005270439.1:p.Thr387ArgfsTer24 | |
| XM_011540523.1:c.935_936del (AP4B1) | XP_011538825.1:p.Thr312ArgfsTer30 | |
| XM_011540524.1:c.935_936del (AP4B1) | XP_011538826.1:p.Thr312ArgfsTer30 | |
| XM_011540525.1:c.881_882del (AP4B1) | XP_011538827.1:p.Thr294ArgfsTer30 | |
| XM_011540527.1:c.542_543del (AP4B1) | XP_011538829.1:p.Thr181ArgfsTer30 | |
| XM_011540528.1:c.185_186del (AP4B1) | XP_011538830.1:p.Thr62ArgfsTer30 | |
| XR_246227.1:n.1342_1343del (AP4B1) | ||
| XR_246228.2:n.1570_1571del (AP4B1) | ||
| XM_011540523.3:c.935_936del (AP4B1) | XP_011538825.1:p.Thr312ArgfsTer30 | |
| XM_011540525.3:c.881_882del (AP4B1) | XP_011538827.1:p.Thr294ArgfsTer30 | |
| XM_017000089.2:c.1160_1161del (AP4B1) | XP_016855578.1:p.Thr387ArgfsTer? | |
| XM_017000090.1:c.656_657del (AP4B1) | XP_016855579.1:p.Thr219ArgfsTer30 | |
| XM_017000091.2:c.881_882del (AP4B1) | XP_016855580.1:p.Thr294ArgfsTer? | |
| XM_017000092.2:c.185_186del (AP4B1) | XP_016855581.1:p.Thr62ArgfsTer30 | |
| XM_017000093.2:c.1160_1161del (AP4B1) | XP_016855582.1:p.Thr387ArgfsTer24 | |
| XM_024452422.1:c.881_882del (AP4B1) | XP_024308190.1:p.Thr294ArgfsTer30 | |
| XM_024452423.1:c.1160_1161del (AP4B1) | XP_024308191.1:p.Thr387ArgfsTer? | |
| XM_024452435.1:c.935_936del (AP4B1) | XP_024308203.1:p.Thr312ArgfsTer? | |
| XM_024452441.1:c.656_657del (AP4B1) | XP_024308209.1:p.Thr219ArgfsTer? | |
| XR_001736928.2:n.1590_1591del (AP4B1) | ||
| XR_001736930.2:n.1631_1632del (AP4B1) | ||
| XR_002958805.1:n.1362_1363del (AP4B1) | ||
| XR_002958806.1:n.1631_1632del (AP4B1) | ||
| XR_002958807.1:n.1470_1471del (AP4B1) | ||
| NM_001253852.3:c.1160_1161del (AP4B1) MANE Select | NP_001240781.1:p.Thr387ArgfsTer30 | |
| NM_001253853.3:c.863_864del (AP4B1) | NP_001240782.1:p.Thr288ArgfsTer30 | |
| NM_001308312.2:c.656_657del (AP4B1) | NP_001295241.1:p.Thr219ArgfsTer30 | |
| NM_006594.5:c.1160_1161del (AP4B1) | NP_006585.2:p.Thr387ArgfsTer30 |