Canonical Allele Identifier: CA1779302579

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42165094_42165095delinsCA , CM000670.2:g.42165094_42165095delinsCA	GRCh38
NC_000008.10:g.42022612_42022613delinsCA , CM000670.1:g.42022612_42022613delinsCA	GRCh37
NC_000008.9:g.42141769_42141770delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006803.4:c.607_608delinsCA MANE Select	NP_006794.1:p.Gln203=
ENST00000396926.8:c.607_608delinsCA MANE Select	ENSP00000380132.3:p.Gln203=
NM_001134296.1:c.607_608delinsCA	NP_001127768.1:p.Gln203=
NM_001134296.2:c.607_608delinsCA	NP_001127768.1:p.Gln203=
NM_006803.3:c.607_608delinsCA	NP_006794.1:p.Gln203=
ENST00000174653.3:c.607_608delinsCA	ENSP00000174653.3:p.Gln203=
ENST00000396926.7:c.607_608delinsCA	ENSP00000380132.3:p.Gln203=
ENST00000517499.5:c.196_197delinsCA	ENSP00000429037.1:p.Gln66=
ENST00000517865.5:c.*338_*339delinsCA	ENSP00000430200.1:n.*338_*339delinsCA
ENST00000517922.5:c.607_608delinsCA	ENSP00000429435.1:p.Gln203=
ENST00000518421.5:c.607_608delinsCA	ENSP00000428787.1:p.Gln203=
ENST00000520685.1:n.78-2572_78-2571delinsCA
ENST00000521280.5:c.262_263delinsCA	ENSP00000430616.1:p.Gln88=
ENST00000521899.1:n.374_375delinsCA
ENST00000523249.1:n.612_613delinsCA
ENST00000530375.5:c.607_608delinsCA	ENSP00000431918.1:p.Gln203=
XM_017012977.2:c.607_608delinsCA	XP_016868466.1:p.Gln203=
XR_001745459.2:n.750_751delinsCA