Canonical Allele Identifier: CA1779304598

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169613_42169618delinsAGAGTT , CM000670.2:g.42169613_42169618delinsAGAGTT	GRCh38
NC_000008.10:g.42027131_42027136delinsAGAGTT , CM000670.1:g.42027131_42027136delinsAGAGTT	GRCh37
NC_000008.9:g.42146288_42146293delinsAGAGTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*552_*557delinsAGAGTT MANE Select	ENSP00000380132.3:n.*552_*557delinsAGAGTT
ENST00000174653.3:c.*552_*557delinsAGAGTT	ENSP00000174653.3:n.*552_*557delinsAGAGTT
ENST00000396926.7:c.*552_*557delinsAGAGTT	ENSP00000380132.3:n.*552_*557delinsAGAGTT
ENST00000518421.5:c.*552_*557delinsAGAGTT	ENSP00000428787.1:n.*552_*557delinsAGAGTT
ENST00000520689.1:c.372-276_372-271delinsAGAGTT	ENSP00000429804.1:n.372-276_372-271delinsAGAGTT
NM_001134296.1:c.*552_*557delinsAGAGTT	NP_001127768.1:n.*552_*557delinsAGAGTT
NM_006803.3:c.*552_*557delinsAGAGTT	NP_006794.1:n.*552_*557delinsAGAGTT
XM_017012977.2:c.*552_*557delinsAGAGTT	XP_016868466.1:n.*552_*557delinsAGAGTT
XR_001745459.2:n.2094_2099delinsAGAGTT
NM_006803.4:c.*552_*557delinsAGAGTT MANE Select	NP_006794.1:n.*552_*557delinsAGAGTT
NM_001134296.2:c.*552_*557delinsAGAGTT	NP_001127768.1:n.*552_*557delinsAGAGTT