Canonical Allele Identifier: CA1779304513

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169426_42169430delinsTAGAA , CM000670.2:g.42169426_42169430delinsTAGAA	GRCh38
NC_000008.10:g.42026944_42026948delinsTAGAA , CM000670.1:g.42026944_42026948delinsTAGAA	GRCh37
NC_000008.9:g.42146101_42146105delinsTAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*365_*369delinsTAGAA MANE Select	ENSP00000380132.3:n.*365_*369delinsTAGAA
ENST00000174653.3:c.*365_*369delinsTAGAA	ENSP00000174653.3:n.*365_*369delinsTAGAA
ENST00000396926.7:c.*365_*369delinsTAGAA	ENSP00000380132.3:n.*365_*369delinsTAGAA
ENST00000518421.5:c.*365_*369delinsTAGAA	ENSP00000428787.1:n.*365_*369delinsTAGAA
ENST00000520689.1:c.371+141_371+145delinsTAGAA	ENSP00000429804.1:n.371+141_371+145delinsTAGAA
NM_001134296.1:c.*365_*369delinsTAGAA	NP_001127768.1:n.*365_*369delinsTAGAA
NM_006803.3:c.*365_*369delinsTAGAA	NP_006794.1:n.*365_*369delinsTAGAA
XM_017012977.2:c.*365_*369delinsTAGAA	XP_016868466.1:n.*365_*369delinsTAGAA
XR_001745459.2:n.1907_1911delinsTAGAA
NM_006803.4:c.*365_*369delinsTAGAA MANE Select	NP_006794.1:n.*365_*369delinsTAGAA
NM_001134296.2:c.*365_*369delinsTAGAA	NP_001127768.1:n.*365_*369delinsTAGAA