Canonical Allele Identifier: CA2191441340
Community Standard Title: NM_001278512.2(AP3B2):c.3116dup (p.Asn1039LysfsTer11)
Gene: AP3B2 HGNC NCBI
CPEB1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.82659885dup , CM000677.2:g.82659885dup GRCh38
NC_000015.9:g.83328637dup , CM000677.1:g.83328637dup GRCh37
NC_000015.8:g.81125692dup NCBI36
NG_052957.1:g.55025dup

Transcript Alleles

HGVS Amino-acid Change
NM_001278512.2:c.3116dup (AP3B2) MANE Select NP_001265441.1:p.Asn1039LysfsTer11
ENST00000535359.6:c.3116dup (AP3B2) MANE Select ENSP00000440984.1:p.Asn1039LysfsTer11
NM_001278511.1:c.2963dup (AP3B2) NP_001265440.1:p.Asn988LysfsTer11
NM_001278511.2:c.2963dup (AP3B2) NP_001265440.1:p.Asn988LysfsTer11
NM_001278512.1:c.3116dup (AP3B2) NP_001265441.1:p.Asn1039LysfsTer11
NM_001348441.1:c.248dup (AP3B2) NP_001335370.1:p.Asn83LysfsTer11
NM_001348441.2:c.248dup (AP3B2) NP_001335370.1:p.Asn83LysfsTer11
NM_004644.4:c.3059dup (AP3B2) NP_004635.2:p.Asn1020LysfsTer11
NM_004644.5:c.3059dup (AP3B2) NP_004635.2:p.Asn1020LysfsTer11
NR_046096.1:n.1328+9739dup (CPEB1-AS1)
ENST00000261722.7:c.3059dup (AP3B2) ENSP00000261722.3:p.Asn1020LysfsTer11
ENST00000261722.8:c.3077dup (AP3B2) ENSP00000261722.4:p.Asn1026LysfsTer11
ENST00000535348.5:c.2963dup (AP3B2) ENSP00000438721.1:p.Asn988LysfsTer11
ENST00000535359.5:c.3116dup (AP3B2) ENSP00000440984.1:p.Asn1039LysfsTer11
ENST00000535385.6:n.4003dup (AP3B2)
ENST00000537735.1:n.727dup (AP3B2)
ENST00000537735.2:n.3205dup (AP3B2)
ENST00000543938.5:n.2182dup (AP3B2)
ENST00000543938.6:n.3703dup (AP3B2)
ENST00000620652.4:c.3059dup (AP3B2) ENSP00000479229.1:p.Asn1020LysfsTer11
ENST00000642989.2:c.3188dup (AP3B2) ENSP00000493485.1:p.Asn1063LysfsTer11
ENST00000652847.1:c.3059dup (AP3B2) ENSP00000499785.1:p.Asn1020LysfsTer11
ENST00000657321.1:c.*2905dup (AP3B2) ENSP00000499716.1:n.*2905dup
ENST00000660624.1:c.1967dup (AP3B2) ENSP00000499379.1:p.Asn656LysfsTer11
ENST00000661532.1:c.2348dup (AP3B2)
ENST00000663651.1:n.3201dup (AP3B2)
ENST00000666973.1:c.2960-174dup (AP3B2) ENSP00000499288.1:n.2960-174dup
ENST00000667758.1:c.*3714dup (AP3B2) ENSP00000499318.1:n.*3714dup
ENST00000668385.1:c.*2857dup (AP3B2) ENSP00000499544.1:n.*2857dup
ENST00000668990.2:c.3059dup (AP3B2) ENSP00000499235.1:p.Asn1020LysfsTer11
ENST00000669930.1:c.2888dup (AP3B2) ENSP00000499671.1:p.Asn963LysfsTer11
ENST00000679388.1:n.3643dup (AP3B2)
ENST00000679531.1:n.5747dup (AP3B2)
ENST00000679891.1:n.1937dup (AP3B2)
ENST00000679950.1:n.4205dup (AP3B2)
ENST00000680492.1:n.4539dup (AP3B2)
ENST00000680912.1:n.2476dup (AP3B2)
ENST00000680946.1:n.4110dup (AP3B2)
ENST00000681044.1:n.4616dup (AP3B2)
ENST00000681327.1:c.*2905dup (AP3B2) ENSP00000505423.1:n.*2905dup
ENST00000681452.1:n.5306dup (AP3B2)
ENST00000681464.1:n.4412dup (AP3B2)
XM_011522097.1:c.3044dup (AP3B2) XP_011520399.1:p.Asn1015LysfsTer11
XM_011522098.1:c.3020dup (AP3B2) XP_011520400.1:p.Asn1007LysfsTer11
XM_011522100.1:c.1967dup (AP3B2) XP_011520402.1:p.Asn656LysfsTer11
XM_017022640.2:c.2987dup (AP3B2) XP_016878129.1:p.Asn996LysfsTer11
XM_024450081.1:c.398dup (AP3B2) XP_024305849.1:p.Asn133LysfsTer11
XM_024450082.1:c.248dup (AP3B2) XP_024305850.1:p.Asn83LysfsTer11
XR_001751404.2:n.3287dup (AP3B2)