Canonical Allele Identifier: CA2967378379

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42165095dup , CM000670.2:g.42165095dup	GRCh38
NC_000008.10:g.42022613dup , CM000670.1:g.42022613dup	GRCh37
NC_000008.9:g.42141770dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006803.4:c.608dup MANE Select	NP_006794.1:p.Val205GlyfsTer3
ENST00000396926.8:c.608dup MANE Select	ENSP00000380132.3:p.Val205GlyfsTer3
NM_001134296.1:c.608dup	NP_001127768.1:p.Val205GlyfsTer3
NM_001134296.2:c.608dup	NP_001127768.1:p.Val205GlyfsTer3
NM_006803.3:c.608dup	NP_006794.1:p.Val205GlyfsTer3
ENST00000174653.3:c.608dup	ENSP00000174653.3:p.Val205GlyfsTer3
ENST00000396926.7:c.608dup	ENSP00000380132.3:p.Val205GlyfsTer3
ENST00000517499.5:c.197dup	ENSP00000429037.1:p.Val68GlyfsTer3
ENST00000517865.5:c.*339dup	ENSP00000430200.1:n.*339dup
ENST00000517922.5:c.608dup	ENSP00000429435.1:p.Val205GlyfsTer3
ENST00000518421.5:c.608dup	ENSP00000428787.1:p.Val205GlyfsTer3
ENST00000520685.1:n.78-2571dup
ENST00000521280.5:c.263dup	ENSP00000430616.1:p.Val90GlyfsTer3
ENST00000521899.1:n.375dup
ENST00000523249.1:n.613dup
ENST00000530375.5:c.608dup	ENSP00000431918.1:p.Val205GlyfsTer3
XM_017012977.2:c.608dup	XP_016868466.1:p.Val205GlyfsTer3
XR_001745459.2:n.751dup