Canonical Allele Identifier: CA2779876792
Gene: AP3M2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169397del , CM000670.2:g.42169397del GRCh38
NC_000008.10:g.42026915del , CM000670.1:g.42026915del GRCh37
NC_000008.9:g.42146072del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396926.8:c.*336del MANE Select ENSP00000380132.3:n.*336del
ENST00000174653.3:c.*336del ENSP00000174653.3:n.*336del
ENST00000396926.7:c.*336del ENSP00000380132.3:n.*336del
ENST00000518421.5:c.*336del ENSP00000428787.1:n.*336del
ENST00000520689.1:c.371+112del ENSP00000429804.1:n.371+112del
NM_001134296.1:c.*336del NP_001127768.1:n.*336del
NM_006803.3:c.*336del NP_006794.1:n.*336del
XM_017012977.2:c.*336del XP_016868466.1:n.*336del
XR_001745459.2:n.1878del
NM_006803.4:c.*336del MANE Select NP_006794.1:n.*336del
NM_001134296.2:c.*336del NP_001127768.1:n.*336del