Linked Data
ClinVar Variation Id:
598736
dbSNP Id:
rs756807665
ExAC:
15:83328379 ACAGT / A
gnomAD v2:
15-83328379-ACAGT-A
gnomAD v3:
15-82659627-ACAGT-A
gnomAD v4:
15-82659627-ACAGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82659631_82659634del , CM000677.2:g.82659631_82659634del | GRCh38 |
| NC_000015.9:g.83328383_83328386del , CM000677.1:g.83328383_83328386del | GRCh37 |
| NC_000015.8:g.81125438_81125441del | NCBI36 |
| NG_052957.1:g.55278_55281del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261722.8:c.3196_3199del (AP3B2) | ENSP00000261722.4:p.Thr1066SerfsTer7 | |
| ENST00000535359.6:c.3235_3238del (AP3B2) MANE Select | ENSP00000440984.1:p.Thr1079SerfsTer7 | |
| ENST00000535385.6:n.4122_4125del (AP3B2) | ||
| ENST00000537735.2:n.3324_3327del (AP3B2) | ||
| ENST00000543938.6:n.3822_3825del (AP3B2) | ||
| ENST00000642989.2:c.3307_3310del (AP3B2) | ENSP00000493485.1:p.Thr1103SerfsTer7 | |
| ENST00000652847.1:c.3209_3212del (AP3B2) | ENSP00000499785.1:p.Asp1070ValfsTer23 | |
| ENST00000657321.1:c.*3024_*3027del (AP3B2) | ENSP00000499716.1:n.*3024_*3027del | |
| ENST00000660624.1:c.2086_2089del (AP3B2) | ENSP00000499379.1:p.Thr696SerfsTer7 | |
| ENST00000661532.1:c.2467_2470del (AP3B2) | ||
| ENST00000663651.1:n.3320_3323del (AP3B2) | ||
| ENST00000666973.1:c.*60_*63del (AP3B2) | ENSP00000499288.1:n.*60_*63del | |
| ENST00000667758.1:c.*3833_*3836del (AP3B2) | ENSP00000499318.1:n.*3833_*3836del | |
| ENST00000668385.1:c.*2976_*2979del (AP3B2) | ENSP00000499544.1:n.*2976_*2979del | |
| ENST00000668990.2:c.3178_3181del (AP3B2) | ENSP00000499235.1:p.Thr1060SerfsTer7 | |
| ENST00000669930.1:c.3007_3010del (AP3B2) | ENSP00000499671.1:p.Thr1003SerfsTer7 | |
| ENST00000679388.1:n.3762_3765del (AP3B2) | ||
| ENST00000679531.1:n.5866_5869del (AP3B2) | ||
| ENST00000679891.1:n.2056_2059del (AP3B2) | ||
| ENST00000679950.1:n.4324_4327del (AP3B2) | ||
| ENST00000680492.1:n.4658_4661del (AP3B2) | ||
| ENST00000680912.1:n.2595_2598del (AP3B2) | ||
| ENST00000680946.1:n.4229_4232del (AP3B2) | ||
| ENST00000681044.1:n.4735_4738del (AP3B2) | ||
| ENST00000681327.1:c.*3024_*3027del (AP3B2) | ENSP00000505423.1:n.*3024_*3027del | |
| ENST00000681452.1:n.5425_5428del (AP3B2) | ||
| ENST00000681464.1:n.4531_4534del (AP3B2) | ||
| ENST00000261722.7:c.3178_3181del (AP3B2) | ENSP00000261722.3:p.Thr1060SerfsTer7 | |
| ENST00000535348.5:c.3082_3085del (AP3B2) | ENSP00000438721.1:p.Thr1028SerfsTer7 | |
| ENST00000535359.5:c.3235_3238del (AP3B2) | ENSP00000440984.1:p.Thr1079SerfsTer7 | |
| ENST00000537735.1:n.846_849del (AP3B2) | ||
| ENST00000543938.5:n.2301_2304del (AP3B2) | ||
| ENST00000620652.4:c.3178_3181del (AP3B2) | ENSP00000479229.1:p.Thr1060SerfsTer7 | |
| NM_001278511.1:c.3082_3085del (AP3B2) | NP_001265440.1:p.Thr1028SerfsTer7 | |
| NM_001278512.1:c.3235_3238del (AP3B2) | NP_001265441.1:p.Thr1079SerfsTer7 | |
| NM_004644.4:c.3178_3181del (AP3B2) | NP_004635.2:p.Thr1060SerfsTer7 | |
| NR_046096.1:n.1328+9485_1328+9488del (CPEB1-AS1) | ||
| XM_011522097.1:c.3163_3166del (AP3B2) | XP_011520399.1:p.Thr1055SerfsTer7 | |
| XM_011522098.1:c.3139_3142del (AP3B2) | XP_011520400.1:p.Thr1047SerfsTer7 | |
| XM_011522100.1:c.2086_2089del (AP3B2) | XP_011520402.1:p.Thr696SerfsTer7 | |
| NM_001348441.1:c.367_370del (AP3B2) | NP_001335370.1:p.Thr123SerfsTer7 | |
| XM_017022640.2:c.3106_3109del (AP3B2) | XP_016878129.1:p.Thr1036SerfsTer7 | |
| XM_024450081.1:c.517_520del (AP3B2) | XP_024305849.1:p.Thr173SerfsTer7 | |
| XM_024450082.1:c.367_370del (AP3B2) | XP_024305850.1:p.Thr123SerfsTer7 | |
| XR_001751404.2:n.3406_3409del (AP3B2) | ||
| NM_001278512.2:c.3235_3238del (AP3B2) MANE Select | NP_001265441.1:p.Thr1079SerfsTer7 | |
| NM_004644.5:c.3178_3181del (AP3B2) | NP_004635.2:p.Thr1060SerfsTer7 | |
| NM_001278511.2:c.3082_3085del (AP3B2) | NP_001265440.1:p.Thr1028SerfsTer7 | |
| NM_001348441.2:c.367_370del (AP3B2) | NP_001335370.1:p.Thr123SerfsTer7 |