Canonical Allele Identifier: CA1779304628

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169687_42169689delinsCTT , CM000670.2:g.42169687_42169689delinsCTT	GRCh38
NC_000008.10:g.42027205_42027207delinsCTT , CM000670.1:g.42027205_42027207delinsCTT	GRCh37
NC_000008.9:g.42146362_42146364delinsCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*626_*628delinsCTT MANE Select	ENSP00000380132.3:n.*626_*628delinsCTT
ENST00000174653.3:c.*626_*628delinsCTT	ENSP00000174653.3:n.*626_*628delinsCTT
ENST00000396926.7:c.*626_*628delinsCTT	ENSP00000380132.3:n.*626_*628delinsCTT
ENST00000518421.5:c.*626_*628delinsCTT	ENSP00000428787.1:n.*626_*628delinsCTT
ENST00000520689.1:c.372-202_372-200delinsCTT	ENSP00000429804.1:n.372-202_372-200delinsCTT
NM_001134296.1:c.*626_*628delinsCTT	NP_001127768.1:n.*626_*628delinsCTT
NM_006803.3:c.*626_*628delinsCTT	NP_006794.1:n.*626_*628delinsCTT
XM_017012977.2:c.*626_*628delinsCTT	XP_016868466.1:n.*626_*628delinsCTT
XR_001745459.2:n.2168_2170delinsCTT
NM_006803.4:c.*626_*628delinsCTT MANE Select	NP_006794.1:n.*626_*628delinsCTT
NM_001134296.2:c.*626_*628delinsCTT	NP_001127768.1:n.*626_*628delinsCTT