Linked Data
ClinVar Variation Id:
374849
ClinVar RCV Id:
RCV000415561
dbSNP Id:
rs1057519271
gnomAD v2:
15-83331900-TGTGA-T
gnomAD v4:
15-82663148-TGTGA-T
PubMed:
PMID:27889060
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82663152_82663155del , CM000677.2:g.82663152_82663155del | GRCh38 |
| NC_000015.9:g.83331904_83331907del , CM000677.1:g.83331904_83331907del | GRCh37 |
| NC_000015.8:g.81128959_81128962del | NCBI36 |
| NG_052957.1:g.51757_51760del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261722.8:c.2540_2543del (AP3B2) | ENSP00000261722.4:p.Leu847GlnfsTer10 | |
| ENST00000535359.6:c.2579_2582del (AP3B2) MANE Select | ENSP00000440984.1:p.Leu860GlnfsTer10 | |
| ENST00000535385.6:n.3025_3028del (AP3B2) | ||
| ENST00000537735.2:n.2668_2671del (AP3B2) | ||
| ENST00000543938.6:n.2725_2728del (AP3B2) | ||
| ENST00000642989.2:c.2651_2654del (AP3B2) | ENSP00000493485.1:p.Leu884GlnfsTer10 | |
| ENST00000652847.1:c.2522_2525del (AP3B2) | ENSP00000499785.1:p.Leu841GlnfsTer10 | |
| ENST00000657321.1:c.*2597_*2600del (AP3B2) | ENSP00000499716.1:n.*2597_*2600del | |
| ENST00000660624.1:c.1430_1433del (AP3B2) | ENSP00000499379.1:p.Leu477GlnfsTer10 | |
| ENST00000661532.1:c.1811_1814del (AP3B2) | ||
| ENST00000663651.1:n.2664_2667del (AP3B2) | ||
| ENST00000666973.1:c.2522_2525del (AP3B2) | ENSP00000499288.1:p.Leu841GlnfsTer10 | |
| ENST00000667758.1:c.*2736_*2739del (AP3B2) | ENSP00000499318.1:n.*2736_*2739del | |
| ENST00000668385.1:c.*2320_*2323del (AP3B2) | ENSP00000499544.1:n.*2320_*2323del | |
| ENST00000668458.1:c.2270_2273del (AP3B2) | ||
| ENST00000668990.2:c.2522_2525del (AP3B2) | ENSP00000499235.1:p.Leu841GlnfsTer10 | |
| ENST00000669930.1:c.2351_2354del (AP3B2) | ENSP00000499671.1:p.Leu784GlnfsTer10 | |
| ENST00000679388.1:n.2461_2464del (AP3B2) | ||
| ENST00000679531.1:n.2928_2931del (AP3B2) | ||
| ENST00000679891.1:n.959_962del (AP3B2) | ||
| ENST00000679950.1:n.3227_3230del (AP3B2) | ||
| ENST00000680492.1:n.3561_3564del (AP3B2) | ||
| ENST00000680912.1:n.1498_1501del (AP3B2) | ||
| ENST00000680946.1:n.2928_2931del (AP3B2) | ||
| ENST00000681044.1:n.3434_3437del (AP3B2) | ||
| ENST00000681327.1:c.*2597_*2600del (AP3B2) | ENSP00000505423.1:n.*2597_*2600del | |
| ENST00000681452.1:n.2928_2931del (AP3B2) | ||
| ENST00000681464.1:n.3434_3437del (AP3B2) | ||
| ENST00000261722.7:c.2522_2525del (AP3B2) | ENSP00000261722.3:p.Leu841GlnfsTer10 | |
| ENST00000535348.5:c.2426_2429del (AP3B2) | ENSP00000438721.1:p.Leu809GlnfsTer10 | |
| ENST00000535359.5:c.2579_2582del (AP3B2) | ENSP00000440984.1:p.Leu860GlnfsTer10 | |
| ENST00000538592.1:c.169_172del (AP3B2) | ENSP00000445804.1:n.169_172del | |
| ENST00000543938.5:n.1645_1648del (AP3B2) | ||
| ENST00000545315.1:n.98_101del (AP3B2) | ||
| ENST00000620652.4:c.2522_2525del (AP3B2) | ENSP00000479229.1:p.Leu841GlnfsTer10 | |
| NM_001278511.1:c.2426_2429del (AP3B2) | NP_001265440.1:p.Leu809GlnfsTer10 | |
| NM_001278512.1:c.2579_2582del (AP3B2) | NP_001265441.1:p.Leu860GlnfsTer10 | |
| NM_004644.4:c.2522_2525del (AP3B2) | NP_004635.2:p.Leu841GlnfsTer10 | |
| NR_046096.1:n.1328+13006_1328+13009del (CPEB1-AS1) | ||
| XM_011522097.1:c.2507_2510del (AP3B2) | XP_011520399.1:p.Leu836GlnfsTer10 | |
| XM_011522098.1:c.2483_2486del (AP3B2) | XP_011520400.1:p.Leu828GlnfsTer10 | |
| XM_011522100.1:c.1430_1433del (AP3B2) | XP_011520402.1:p.Leu477GlnfsTer10 | |
| XM_017022640.2:c.2450_2453del (AP3B2) | XP_016878129.1:p.Leu817GlnfsTer10 | |
| XM_024450081.1:c.-140_-137del (AP3B2) | XP_024305849.1:n.-140_-137del | |
| XM_024450082.1:c.-731_-728del (AP3B2) | XP_024305850.1:n.-731_-728del | |
| XR_001751404.2:n.2750_2753del (AP3B2) | ||
| NM_001278512.2:c.2579_2582del (AP3B2) MANE Select | NP_001265441.1:p.Leu860GlnfsTer10 | |
| NM_004644.5:c.2522_2525del (AP3B2) | NP_004635.2:p.Leu841GlnfsTer10 | |
| NM_001278511.2:c.2426_2429del (AP3B2) | NP_001265440.1:p.Leu809GlnfsTer10 |