Canonical Allele Identifier: CA1779304703

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169838_42169841delinsCCTT , CM000670.2:g.42169838_42169841delinsCCTT	GRCh38
NC_000008.10:g.42027356_42027359delinsCCTT , CM000670.1:g.42027356_42027359delinsCCTT	GRCh37
NC_000008.9:g.42146513_42146516delinsCCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*777_*780delinsCCTT MANE Select	ENSP00000380132.3:n.*777_*780delinsCCTT
ENST00000174653.3:c.*777_*780delinsCCTT	ENSP00000174653.3:n.*777_*780delinsCCTT
ENST00000396926.7:c.*777_*780delinsCCTT	ENSP00000380132.3:n.*777_*780delinsCCTT
ENST00000518421.5:c.*777_*780delinsCCTT	ENSP00000428787.1:n.*777_*780delinsCCTT
ENST00000520689.1:c.372-51_372-48delinsCCTT	ENSP00000429804.1:n.372-51_372-48delinsCCTT
NM_001134296.1:c.*777_*780delinsCCTT	NP_001127768.1:n.*777_*780delinsCCTT
NM_006803.3:c.*777_*780delinsCCTT	NP_006794.1:n.*777_*780delinsCCTT
XM_017012977.2:c.*777_*780delinsCCTT	XP_016868466.1:n.*777_*780delinsCCTT
XR_001745459.2:n.2319_2322delinsCCTT
NM_006803.4:c.*777_*780delinsCCTT MANE Select	NP_006794.1:n.*777_*780delinsCCTT
NM_001134296.2:c.*777_*780delinsCCTT	NP_001127768.1:n.*777_*780delinsCCTT