Canonical Allele Identifier: CA581596390

Gene: AP3M2

Linked Data

• dbSNP Id: rs1554711723
• gnomAD v2: 8-42027205-CTT-C
• gnomAD v3: 8-42169687-CTT-C
• gnomAD v4: 8-42169687-CTT-C
• MyVariant Identifiers: chr8:g.42027206_42027207del (hg19) ; chr8:g.42169688_42169689del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169691_42169692del , CM000670.2:g.42169691_42169692del	GRCh38
NC_000008.10:g.42027209_42027210del , CM000670.1:g.42027209_42027210del	GRCh37
NC_000008.9:g.42146366_42146367del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396926.8:c.*630_*631del MANE Select	ENSP00000380132.3:n.*630_*631del
ENST00000174653.3:c.*630_*631del	ENSP00000174653.3:n.*630_*631del
ENST00000396926.7:c.*630_*631del	ENSP00000380132.3:n.*630_*631del
ENST00000518421.5:c.*630_*631del	ENSP00000428787.1:n.*630_*631del
ENST00000520689.1:c.372-198_372-197del	ENSP00000429804.1:n.372-198_372-197del
NM_001134296.1:c.*630_*631del	NP_001127768.1:n.*630_*631del
NM_006803.3:c.*630_*631del	NP_006794.1:n.*630_*631del
XM_017012977.2:c.*630_*631del	XP_016868466.1:n.*630_*631del
XR_001745459.2:n.2172_2173del
NM_006803.4:c.*630_*631del MANE Select	NP_006794.1:n.*630_*631del
NM_001134296.2:c.*630_*631del	NP_001127768.1:n.*630_*631del