Canonical Allele Identifier: CA2687083848
Gene: AP3M2 HGNC NCBI

Linked Data

gnomAD v4: 8-42169325-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169329del , CM000670.2:g.42169329del GRCh38
NC_000008.10:g.42026847del , CM000670.1:g.42026847del GRCh37
NC_000008.9:g.42146004del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396926.8:c.*268del MANE Select ENSP00000380132.3:n.*268del
ENST00000174653.3:c.*268del ENSP00000174653.3:n.*268del
ENST00000396926.7:c.*268del ENSP00000380132.3:n.*268del
ENST00000518421.5:c.*268del ENSP00000428787.1:n.*268del
ENST00000520689.1:c.371+44del ENSP00000429804.1:n.371+44del
NM_001134296.1:c.*268del NP_001127768.1:n.*268del
NM_006803.3:c.*268del NP_006794.1:n.*268del
XM_017012977.2:c.*268del XP_016868466.1:n.*268del
XR_001745459.2:n.1810del
NM_006803.4:c.*268del MANE Select NP_006794.1:n.*268del
NM_001134296.2:c.*268del NP_001127768.1:n.*268del
Search 100 bp 5'
Search 100 bp 3'