Canonical Allele Identifier: CA1779304504

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169403_42169406delinsACTT , CM000670.2:g.42169403_42169406delinsACTT	GRCh38
NC_000008.10:g.42026921_42026924delinsACTT , CM000670.1:g.42026921_42026924delinsACTT	GRCh37
NC_000008.9:g.42146078_42146081delinsACTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*342_*345delinsACTT MANE Select	ENSP00000380132.3:n.*342_*345delinsACTT
ENST00000174653.3:c.*342_*345delinsACTT	ENSP00000174653.3:n.*342_*345delinsACTT
ENST00000396926.7:c.*342_*345delinsACTT	ENSP00000380132.3:n.*342_*345delinsACTT
ENST00000518421.5:c.*342_*345delinsACTT	ENSP00000428787.1:n.*342_*345delinsACTT
ENST00000520689.1:c.371+118_371+121delinsACTT	ENSP00000429804.1:n.371+118_371+121delinsACTT
NM_001134296.1:c.*342_*345delinsACTT	NP_001127768.1:n.*342_*345delinsACTT
NM_006803.3:c.*342_*345delinsACTT	NP_006794.1:n.*342_*345delinsACTT
XM_017012977.2:c.*342_*345delinsACTT	XP_016868466.1:n.*342_*345delinsACTT
XR_001745459.2:n.1884_1887delinsACTT
NM_006803.4:c.*342_*345delinsACTT MANE Select	NP_006794.1:n.*342_*345delinsACTT
NM_001134296.2:c.*342_*345delinsACTT	NP_001127768.1:n.*342_*345delinsACTT