Canonical Allele Identifier: CA1113194701

Gene: AP3M2

Linked Data

• dbSNP Id: rs1804740815
• gnomAD v3: 8-42169639-CCTCTA-C
• gnomAD v4: 8-42169639-CCTCTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169643_42169647del , CM000670.2:g.42169643_42169647del	GRCh38
NC_000008.10:g.42027161_42027165del , CM000670.1:g.42027161_42027165del	GRCh37
NC_000008.9:g.42146318_42146322del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396926.8:c.*582_*586del MANE Select	ENSP00000380132.3:n.*582_*586del
ENST00000174653.3:c.*582_*586del	ENSP00000174653.3:n.*582_*586del
ENST00000396926.7:c.*582_*586del	ENSP00000380132.3:n.*582_*586del
ENST00000518421.5:c.*582_*586del	ENSP00000428787.1:n.*582_*586del
ENST00000520689.1:c.372-246_372-242del	ENSP00000429804.1:n.372-246_372-242del
NM_001134296.1:c.*582_*586del	NP_001127768.1:n.*582_*586del
NM_006803.3:c.*582_*586del	NP_006794.1:n.*582_*586del
XM_017012977.2:c.*582_*586del	XP_016868466.1:n.*582_*586del
XR_001745459.2:n.2124_2128del
NM_006803.4:c.*582_*586del MANE Select	NP_006794.1:n.*582_*586del
NM_001134296.2:c.*582_*586del	NP_001127768.1:n.*582_*586del