Canonical Allele Identifier: CA1113194667

Gene: AP3M2

Linked Data

• dbSNP Id: rs1804737403
• gnomAD v3: 8-42169524-AAG-A
• gnomAD v4: 8-42169524-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169526_42169527del , CM000670.2:g.42169526_42169527del	GRCh38
NC_000008.10:g.42027044_42027045del , CM000670.1:g.42027044_42027045del	GRCh37
NC_000008.9:g.42146201_42146202del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*465_*466del MANE Select	ENSP00000380132.3:n.*465_*466del
ENST00000174653.3:c.*465_*466del	ENSP00000174653.3:n.*465_*466del
ENST00000396926.7:c.*465_*466del	ENSP00000380132.3:n.*465_*466del
ENST00000518421.5:c.*465_*466del	ENSP00000428787.1:n.*465_*466del
ENST00000520689.1:c.371+241_371+242del	ENSP00000429804.1:n.371+241_371+242del
NM_001134296.1:c.*465_*466del	NP_001127768.1:n.*465_*466del
NM_006803.3:c.*465_*466del	NP_006794.1:n.*465_*466del
XM_017012977.2:c.*465_*466del	XP_016868466.1:n.*465_*466del
XR_001745459.2:n.2007_2008del
NM_006803.4:c.*465_*466del MANE Select	NP_006794.1:n.*465_*466del
NM_001134296.2:c.*465_*466del	NP_001127768.1:n.*465_*466del