Canonical Allele Identifier: CA1779304544
Gene: AP3M2 HGNC NCBI

Linked Data

dbSNP Id: rs1804736417
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169490del , CM000670.2:g.42169490del GRCh38
NC_000008.10:g.42027008del , CM000670.1:g.42027008del GRCh37
NC_000008.9:g.42146165del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396926.8:c.*429del MANE Select ENSP00000380132.3:n.*429del
ENST00000174653.3:c.*429del ENSP00000174653.3:n.*429del
ENST00000396926.7:c.*429del ENSP00000380132.3:n.*429del
ENST00000518421.5:c.*429del ENSP00000428787.1:n.*429del
ENST00000520689.1:c.371+205del ENSP00000429804.1:n.371+205del
NM_001134296.1:c.*429del NP_001127768.1:n.*429del
NM_006803.3:c.*429del NP_006794.1:n.*429del
XM_017012977.2:c.*429del XP_016868466.1:n.*429del
XR_001745459.2:n.1971del
NM_006803.4:c.*429del MANE Select NP_006794.1:n.*429del
NM_001134296.2:c.*429del NP_001127768.1:n.*429del
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