Canonical Allele Identifier: CA1779304717

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169870_42169871delinsCT , CM000670.2:g.42169870_42169871delinsCT	GRCh38
NC_000008.10:g.42027388_42027389delinsCT , CM000670.1:g.42027388_42027389delinsCT	GRCh37
NC_000008.9:g.42146545_42146546delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*809_*810delinsCT MANE Select	ENSP00000380132.3:n.*809_*810delinsCT
ENST00000174653.3:c.*809_*810delinsCT	ENSP00000174653.3:n.*809_*810delinsCT
ENST00000396926.7:c.*809_*810delinsCT	ENSP00000380132.3:n.*809_*810delinsCT
ENST00000518421.5:c.*809_*810delinsCT	ENSP00000428787.1:n.*809_*810delinsCT
ENST00000520689.1:c.372-19_372-18delinsCT	ENSP00000429804.1:n.372-19_372-18delinsCT
NM_001134296.1:c.*809_*810delinsCT	NP_001127768.1:n.*809_*810delinsCT
NM_006803.3:c.*809_*810delinsCT	NP_006794.1:n.*809_*810delinsCT
XM_017012977.2:c.*809_*810delinsCT	XP_016868466.1:n.*809_*810delinsCT
XR_001745459.2:n.2351_2352delinsCT
NM_006803.4:c.*809_*810delinsCT MANE Select	NP_006794.1:n.*809_*810delinsCT
NM_001134296.2:c.*809_*810delinsCT	NP_001127768.1:n.*809_*810delinsCT