Canonical Allele Identifier: CA3317397

Gene: AP3B1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78228253dup , CM000667.2:g.78228253dup	GRCh38
NC_000005.9:g.77524077dup , CM000667.1:g.77524077dup	GRCh37
NC_000005.8:g.77559833dup	NCBI36
NG_007268.1:g.71460dup , LRG_170:g.71460dup

Transcript Alleles

HGVS	Amino-acid Change
NM_003664.5:c.280-6dup MANE Select	NP_003655.3:n.280-6dup
ENST00000255194.11:c.280-6dup MANE Select	ENSP00000255194.7:n.280-6dup
NM_001271769.1:c.133-6dup	NP_001258698.1:n.133-6dup
NM_001271769.2:c.133-6dup	NP_001258698.1:n.133-6dup
NM_003664.4:c.280-6dup , LRG_170t1:c.280-6dup	NP_003655.3:n.280-6dup
ENST00000255194.10:c.280-6dup	ENSP00000255194.6:n.280-6dup
ENST00000517561.2:c.280-6dup	ENSP00000511839.1:n.280-6dup
ENST00000517940.2:c.280-6dup	ENSP00000511881.1:n.280-6dup
ENST00000519295.5:c.133-6dup	ENSP00000430597.1:n.133-6dup
ENST00000519295.6:c.133-6dup	ENSP00000430597.1:n.133-6dup
ENST00000519888.6:c.280-6dup	ENSP00000511880.1:n.280-6dup
ENST00000695447.1:c.280-6dup	ENSP00000511917.1:n.280-6dup
ENST00000695449.1:c.*325-6dup	ENSP00000511918.1:n.*325-6dup
ENST00000695450.1:c.280-6dup	ENSP00000511919.1:n.280-6dup
ENST00000695451.1:c.497-6dup	ENSP00000511920.1:n.497-6dup
ENST00000695452.1:n.401-6dup
ENST00000695453.1:c.280-6dup	ENSP00000511921.1:n.280-6dup
ENST00000695454.1:c.280-6dup	ENSP00000511922.1:n.280-6dup
ENST00000695455.1:c.133-6dup	ENSP00000511923.1:n.133-6dup
ENST00000695488.1:c.280-6dup	ENSP00000511959.1:n.280-6dup
ENST00000695505.1:n.438-6dup
ENST00000695507.1:c.280-6dup	ENSP00000511970.1:n.280-6dup
ENST00000695510.1:c.280-6dup	ENSP00000511973.1:n.280-6dup
ENST00000695511.1:c.280-6dup	ENSP00000511974.1:n.280-6dup
ENST00000695512.1:c.280-6dup	ENSP00000511975.1:n.280-6dup
ENST00000695513.1:c.133-6dup	ENSP00000511976.1:n.133-6dup
ENST00000695514.1:c.280-6dup	ENSP00000511977.1:n.280-6dup
ENST00000695515.1:c.280-6dup	ENSP00000511978.1:n.280-6dup
ENST00000695540.1:n.436-6dup
XM_005248618.2:c.280-6dup	XP_005248675.1:n.280-6dup
XM_005248618.4:c.280-6dup	XP_005248675.1:n.280-6dup
XM_005248619.3:c.280-6dup	XP_005248676.1:n.280-6dup
XM_005248619.5:c.280-6dup	XP_005248676.1:n.280-6dup
XM_017010001.1:c.133-6dup	XP_016865490.1:n.133-6dup