Canonical Allele Identifier: CA851854127

Gene: AP3M2

Linked Data

• dbSNP Id: rs1258697801
• gnomAD v3: 8-42169593-TAAG-T
• gnomAD v4: 8-42169593-TAAG-T
• MyVariant Identifiers: chr8:g.42027112_42027114del (hg19) ; chr8:g.42169594_42169596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169594_42169596del , CM000670.2:g.42169594_42169596del	GRCh38
NC_000008.10:g.42027112_42027114del , CM000670.1:g.42027112_42027114del	GRCh37
NC_000008.9:g.42146269_42146271del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*533_*535del MANE Select	ENSP00000380132.3:n.*533_*535del
ENST00000174653.3:c.*533_*535del	ENSP00000174653.3:n.*533_*535del
ENST00000396926.7:c.*533_*535del	ENSP00000380132.3:n.*533_*535del
ENST00000518421.5:c.*533_*535del	ENSP00000428787.1:n.*533_*535del
ENST00000520689.1:c.372-295_372-293del	ENSP00000429804.1:n.372-295_372-293del
NM_001134296.1:c.*533_*535del	NP_001127768.1:n.*533_*535del
NM_006803.3:c.*533_*535del	NP_006794.1:n.*533_*535del
XM_017012977.2:c.*533_*535del	XP_016868466.1:n.*533_*535del
XR_001745459.2:n.2075_2077del
NM_006803.4:c.*533_*535del MANE Select	NP_006794.1:n.*533_*535del
NM_001134296.2:c.*533_*535del	NP_001127768.1:n.*533_*535del