Canonical Allele Identifier: CA3316675

Gene: AP3B1

Linked Data

• dbSNP Id: rs765309616
• ExAC: 5:77334855 A / ATTAATAT
• gnomAD v2: 5-77334855-A-ATTAATAT
• gnomAD v4: 5-78039031-A-ATTAATAT
• MyVariant Identifiers: chr5:g.77334855_77334856insTTAATAT (hg19) ; chr5:g.78039031_78039032insTTAATAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78039035_78039041dup , CM000667.2:g.78039035_78039041dup	GRCh38
NC_000005.9:g.77334859_77334865dup , CM000667.1:g.77334859_77334865dup	GRCh37
NC_000005.8:g.77370615_77370621dup	NCBI36
NG_007268.1:g.260667_260673dup , LRG_170:g.260667_260673dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519295.6:c.2662+5_2662+11dup	ENSP00000430597.1:n.2662+5_2662+11dup
ENST00000523204.2:n.609+5_609+11dup
ENST00000695447.1:c.2702+5_2702+11dup	ENSP00000511917.1:n.2702+5_2702+11dup
ENST00000695450.1:c.2008+5_2008+11dup	ENSP00000511919.1:n.2008+5_2008+11dup
ENST00000695451.1:c.*2571+5_*2571+11dup	ENSP00000511920.1:n.*2571+5_*2571+11dup
ENST00000695453.1:c.2752+5_2752+11dup	ENSP00000511921.1:n.2752+5_2752+11dup
ENST00000695454.1:c.2803+5_2803+11dup	ENSP00000511922.1:n.2803+5_2803+11dup
ENST00000695455.1:c.2662+5_2662+11dup	ENSP00000511923.1:n.2662+5_2662+11dup
ENST00000695458.1:n.524+5_524+11dup
ENST00000695488.1:c.2809+5_2809+11dup	ENSP00000511959.1:n.2809+5_2809+11dup
ENST00000695505.1:n.2967+5_2967+11dup
ENST00000695506.1:n.461+5_461+11dup
ENST00000695507.1:c.*334+5_*334+11dup	ENSP00000511970.1:n.*334+5_*334+11dup
ENST00000695510.1:c.2809+5_2809+11dup	ENSP00000511973.1:n.2809+5_2809+11dup
ENST00000695511.1:c.2809+5_2809+11dup	ENSP00000511974.1:n.2809+5_2809+11dup
ENST00000695512.1:c.2629+5_2629+11dup	ENSP00000511975.1:n.2629+5_2629+11dup
ENST00000695513.1:c.2674+5_2674+11dup	ENSP00000511976.1:n.2674+5_2674+11dup
ENST00000695515.1:c.2809+5_2809+11dup	ENSP00000511978.1:n.2809+5_2809+11dup
ENST00000255194.11:c.2809+5_2809+11dup MANE Select	ENSP00000255194.7:n.2809+5_2809+11dup
ENST00000255194.10:c.2809+5_2809+11dup	ENSP00000255194.6:n.2809+5_2809+11dup
ENST00000519295.5:c.2662+5_2662+11dup	ENSP00000430597.1:n.2662+5_2662+11dup
ENST00000522901.1:c.108+5_108+11dup
ENST00000523204.1:n.609+5_609+11dup
NM_001271769.1:c.2662+5_2662+11dup	NP_001258698.1:n.2662+5_2662+11dup
NM_003664.4:c.2809+5_2809+11dup , LRG_170t1:c.2809+5_2809+11dup	NP_003655.3:n.2809+5_2809+11dup
XM_005248618.2:c.2809+5_2809+11dup	XP_005248675.1:n.2809+5_2809+11dup
XM_005248618.4:c.2809+5_2809+11dup	XP_005248675.1:n.2809+5_2809+11dup
XM_017010001.1:c.2662+5_2662+11dup	XP_016865490.1:n.2662+5_2662+11dup
NM_001271769.2:c.2662+5_2662+11dup	NP_001258698.1:n.2662+5_2662+11dup
NM_003664.5:c.2809+5_2809+11dup MANE Select	NP_003655.3:n.2809+5_2809+11dup