Canonical Allele Identifier: CA2779876805
Gene: AP3M2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169526del , CM000670.2:g.42169526del GRCh38
NC_000008.10:g.42027044del , CM000670.1:g.42027044del GRCh37
NC_000008.9:g.42146201del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396926.8:c.*465del MANE Select ENSP00000380132.3:n.*465del
ENST00000174653.3:c.*465del ENSP00000174653.3:n.*465del
ENST00000396926.7:c.*465del ENSP00000380132.3:n.*465del
ENST00000518421.5:c.*465del ENSP00000428787.1:n.*465del
ENST00000520689.1:c.371+241del ENSP00000429804.1:n.371+241del
NM_001134296.1:c.*465del NP_001127768.1:n.*465del
NM_006803.3:c.*465del NP_006794.1:n.*465del
XM_017012977.2:c.*465del XP_016868466.1:n.*465del
XR_001745459.2:n.2007del
NM_006803.4:c.*465del MANE Select NP_006794.1:n.*465del
NM_001134296.2:c.*465del NP_001127768.1:n.*465del