Canonical Allele Identifier: CA354056
Gene: AP3B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224761
ClinVar RCV Id: RCV000210297
dbSNP Id: rs869312836

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78129204del , CM000667.2:g.78129204del GRCh38
NC_000005.9:g.77425028del , CM000667.1:g.77425028del GRCh37
NC_000005.8:g.77460784del NCBI36
NG_007268.1:g.170501del , LRG_170:g.170501del

Transcript Alleles

HGVS Amino-acid change
ENST00000517561.2:c.1754del ENSP00000511839.1:p.Val585GlufsTer6
ENST00000517940.2:c.1754del ENSP00000511881.1:p.Val585GlufsTer6
ENST00000519295.6:c.1607del ENSP00000430597.1:p.Val536GlufsTer6
ENST00000519888.6:c.1754del ENSP00000511880.1:p.Val585GlufsTer6
ENST00000695447.1:c.1754del ENSP00000511917.1:p.Val585GlufsTer6
ENST00000695450.1:c.1168-12970del ENSP00000511919.1:n.1168-12970del
ENST00000695451.1:c.*1520del ENSP00000511920.1:n.*1520del
ENST00000695453.1:c.1697del ENSP00000511921.1:p.Val566GlufsTer6
ENST00000695454.1:c.1748del ENSP00000511922.1:p.Val583GlufsTer6
ENST00000695455.1:c.1607del ENSP00000511923.1:p.Val536GlufsTer6
ENST00000695488.1:c.1754del ENSP00000511959.1:p.Val585GlufsTer6
ENST00000695505.1:n.1912del
ENST00000695507.1:c.1754del ENSP00000511970.1:p.Val585GlufsTer6
ENST00000695510.1:c.1754del ENSP00000511973.1:p.Val585GlufsTer6
ENST00000695511.1:c.1754del ENSP00000511974.1:p.Val585GlufsTer6
ENST00000695512.1:c.1754del ENSP00000511975.1:p.Val585GlufsTer6
ENST00000695513.1:c.1619del ENSP00000511976.1:p.Val540GlufsTer6
ENST00000695514.1:c.1754del ENSP00000511977.1:p.Val585GlufsTer6
ENST00000695515.1:c.1754del ENSP00000511978.1:p.Val585GlufsTer6
ENST00000255194.11:c.1754del MANE Select ENSP00000255194.7:p.Val585GlufsTer6
ENST00000255194.10:c.1754del ENSP00000255194.6:p.Val585GlufsTer6
ENST00000517561.1:n.132del
ENST00000519295.5:c.1607del ENSP00000430597.1:p.Val536GlufsTer6
NM_001271769.1:c.1607del NP_001258698.1:p.Val536GlufsTer6
NM_003664.4:c.1754del , LRG_170t1:c.1754del NP_003655.3:p.Val585GlufsTer6
XM_005248618.2:c.1754del XP_005248675.1:p.Val585GlufsTer6
XM_005248619.3:c.1754del XP_005248676.1:p.Val585GlufsTer6
XM_005248618.4:c.1754del XP_005248675.1:p.Val585GlufsTer6
XM_005248619.5:c.1754del XP_005248676.1:p.Val585GlufsTer6
XM_017010001.1:c.1607del XP_016865490.1:p.Val536GlufsTer6
NM_001271769.2:c.1607del NP_001258698.1:p.Val536GlufsTer6
NM_003664.5:c.1754del MANE Select NP_003655.3:p.Val585GlufsTer6