Canonical Allele Identifier: CA2674353648

Gene: AP3B1

Linked Data

• ClinVar Variation Id: 2676753
• ClinVar RCV Id: RCV003470230
• gnomAD v4: 5-78141270-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78141273_78141274del , CM000667.2:g.78141273_78141274del	GRCh38
NC_000005.9:g.77437097_77437098del , CM000667.1:g.77437097_77437098del	GRCh37
NC_000005.8:g.77472853_77472854del	NCBI36
NG_007268.1:g.158433_158434del , LRG_170:g.158433_158434del

Transcript Alleles

HGVS	Amino-acid change
ENST00000517561.2:c.1521_1522del	ENSP00000511839.1:p.Cys507Ter
ENST00000517940.2:c.1521_1522del	ENSP00000511881.1:p.Cys507Ter
ENST00000519295.6:c.1374_1375del	ENSP00000430597.1:p.Cys458Ter
ENST00000519888.6:c.1521_1522del	ENSP00000511880.1:p.Cys507Ter
ENST00000695447.1:c.1521_1522del	ENSP00000511917.1:p.Cys507Ter
ENST00000695450.1:c.1168-25038_1168-25037del	ENSP00000511919.1:n.1168-25038_1168-25037del
ENST00000695451.1:c.*1287_*1288del	ENSP00000511920.1:n.*1287_*1288del
ENST00000695453.1:c.1521_1522del	ENSP00000511921.1:p.Cys507Ter
ENST00000695454.1:c.1515_1516del	ENSP00000511922.1:p.Cys505Ter
ENST00000695455.1:c.1374_1375del	ENSP00000511923.1:p.Cys458Ter
ENST00000695488.1:c.1521_1522del	ENSP00000511959.1:p.Cys507Ter
ENST00000695505.1:n.1679_1680del
ENST00000695507.1:c.1521_1522del	ENSP00000511970.1:p.Cys507Ter
ENST00000695510.1:c.1521_1522del	ENSP00000511973.1:p.Cys507Ter
ENST00000695511.1:c.1521_1522del	ENSP00000511974.1:p.Cys507Ter
ENST00000695512.1:c.1521_1522del	ENSP00000511975.1:p.Cys507Ter
ENST00000695513.1:c.1386_1387del	ENSP00000511976.1:p.Cys462Ter
ENST00000695514.1:c.1521_1522del	ENSP00000511977.1:p.Cys507Ter
ENST00000695515.1:c.1521_1522del	ENSP00000511978.1:p.Cys507Ter
ENST00000255194.11:c.1521_1522del MANE Select	ENSP00000255194.7:p.Cys507Ter
ENST00000255194.10:c.1521_1522del	ENSP00000255194.6:p.Cys507Ter
ENST00000519295.5:c.1374_1375del	ENSP00000430597.1:p.Cys458Ter
NM_001271769.1:c.1374_1375del	NP_001258698.1:p.Cys458Ter
NM_003664.4:c.1521_1522del , LRG_170t1:c.1521_1522del	NP_003655.3:p.Cys507Ter
XM_005248618.2:c.1521_1522del	XP_005248675.1:p.Cys507Ter
XM_005248619.3:c.1521_1522del	XP_005248676.1:p.Cys507Ter
XM_005248618.4:c.1521_1522del	XP_005248675.1:p.Cys507Ter
XM_005248619.5:c.1521_1522del	XP_005248676.1:p.Cys507Ter
XM_017010001.1:c.1374_1375del	XP_016865490.1:p.Cys458Ter
NM_001271769.2:c.1374_1375del	NP_001258698.1:p.Cys458Ter
NM_003664.5:c.1521_1522del MANE Select	NP_003655.3:p.Cys507Ter