Canonical Allele Identifier: CA619408858
Gene: AP3B2 HGNC NCBI
CPEB1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.82659918_82659920del , CM000677.2:g.82659918_82659920del GRCh38
NC_000015.9:g.83328670_83328672del , CM000677.1:g.83328670_83328672del GRCh37
NC_000015.8:g.81125725_81125727del NCBI36
NG_052957.1:g.54991_54993del

Transcript Alleles

HGVS Amino-acid Change
NM_001278512.2:c.3082_3084del (AP3B2) MANE Select NP_001265441.1:p.His1028del
ENST00000535359.6:c.3082_3084del (AP3B2) MANE Select ENSP00000440984.1:p.His1028del
NM_001278511.1:c.2929_2931del (AP3B2) NP_001265440.1:p.His977del
NM_001278511.2:c.2929_2931del (AP3B2) NP_001265440.1:p.His977del
NM_001278512.1:c.3082_3084del (AP3B2) NP_001265441.1:p.His1028del
NM_001348441.1:c.214_216del (AP3B2) NP_001335370.1:p.His72del
NM_001348441.2:c.214_216del (AP3B2) NP_001335370.1:p.His72del
NM_004644.4:c.3025_3027del (AP3B2) NP_004635.2:p.His1009del
NM_004644.5:c.3025_3027del (AP3B2) NP_004635.2:p.His1009del
NR_046096.1:n.1328+9772_1328+9774del (CPEB1-AS1)
ENST00000261722.7:c.3025_3027del (AP3B2) ENSP00000261722.3:p.His1009del
ENST00000261722.8:c.3043_3045del (AP3B2) ENSP00000261722.4:p.His1015del
ENST00000535348.5:c.2929_2931del (AP3B2) ENSP00000438721.1:p.His977del
ENST00000535359.5:c.3082_3084del (AP3B2) ENSP00000440984.1:p.His1028del
ENST00000535385.6:n.3969_3971del (AP3B2)
ENST00000537735.1:n.693_695del (AP3B2)
ENST00000537735.2:n.3171_3173del (AP3B2)
ENST00000543938.5:n.2148_2150del (AP3B2)
ENST00000543938.6:n.3669_3671del (AP3B2)
ENST00000620652.4:c.3025_3027del (AP3B2) ENSP00000479229.1:p.His1009del
ENST00000642989.2:c.3154_3156del (AP3B2) ENSP00000493485.1:p.His1052del
ENST00000652847.1:c.3025_3027del (AP3B2) ENSP00000499785.1:p.His1009del
ENST00000657321.1:c.*2871_*2873del (AP3B2) ENSP00000499716.1:n.*2871_*2873del
ENST00000660624.1:c.1933_1935del (AP3B2) ENSP00000499379.1:p.His645del
ENST00000661532.1:c.2314_2316del (AP3B2)
ENST00000663651.1:n.3167_3169del (AP3B2)
ENST00000666973.1:c.2960-208_2960-206del (AP3B2) ENSP00000499288.1:n.2960-208_2960-206del
ENST00000667758.1:c.*3680_*3682del (AP3B2) ENSP00000499318.1:n.*3680_*3682del
ENST00000668385.1:c.*2823_*2825del (AP3B2) ENSP00000499544.1:n.*2823_*2825del
ENST00000668990.2:c.3025_3027del (AP3B2) ENSP00000499235.1:p.His1009del
ENST00000669930.1:c.2854_2856del (AP3B2) ENSP00000499671.1:p.His952del
ENST00000679388.1:n.3609_3611del (AP3B2)
ENST00000679531.1:n.5713_5715del (AP3B2)
ENST00000679891.1:n.1903_1905del (AP3B2)
ENST00000679950.1:n.4171_4173del (AP3B2)
ENST00000680492.1:n.4505_4507del (AP3B2)
ENST00000680912.1:n.2442_2444del (AP3B2)
ENST00000680946.1:n.4076_4078del (AP3B2)
ENST00000681044.1:n.4582_4584del (AP3B2)
ENST00000681327.1:c.*2871_*2873del (AP3B2) ENSP00000505423.1:n.*2871_*2873del
ENST00000681452.1:n.5272_5274del (AP3B2)
ENST00000681464.1:n.4378_4380del (AP3B2)
XM_011522097.1:c.3010_3012del (AP3B2) XP_011520399.1:p.His1004del
XM_011522098.1:c.2986_2988del (AP3B2) XP_011520400.1:p.His996del
XM_011522100.1:c.1933_1935del (AP3B2) XP_011520402.1:p.His645del
XM_017022640.2:c.2953_2955del (AP3B2) XP_016878129.1:p.His985del
XM_024450081.1:c.364_366del (AP3B2) XP_024305849.1:p.His122del
XM_024450082.1:c.214_216del (AP3B2) XP_024305850.1:p.His72del
XR_001751404.2:n.3253_3255del (AP3B2)