Canonical Allele Identifier: CA2687083894
Gene: AP3M2 HGNC NCBI

Linked Data

gnomAD v4: 8-42169415-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169421del , CM000670.2:g.42169421del GRCh38
NC_000008.10:g.42026939del , CM000670.1:g.42026939del GRCh37
NC_000008.9:g.42146096del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396926.8:c.*360del MANE Select ENSP00000380132.3:n.*360del
ENST00000174653.3:c.*360del ENSP00000174653.3:n.*360del
ENST00000396926.7:c.*360del ENSP00000380132.3:n.*360del
ENST00000518421.5:c.*360del ENSP00000428787.1:n.*360del
ENST00000520689.1:c.371+136del ENSP00000429804.1:n.371+136del
NM_001134296.1:c.*360del NP_001127768.1:n.*360del
NM_006803.3:c.*360del NP_006794.1:n.*360del
XM_017012977.2:c.*360del XP_016868466.1:n.*360del
XR_001745459.2:n.1902del
NM_006803.4:c.*360del MANE Select NP_006794.1:n.*360del
NM_001134296.2:c.*360del NP_001127768.1:n.*360del
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