Canonical Allele Identifier: CA1779304526

Gene: AP3M2

Linked Data

• dbSNP Id: rs1804735210

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169464_42169467del , CM000670.2:g.42169464_42169467del	GRCh38
NC_000008.10:g.42026982_42026985del , CM000670.1:g.42026982_42026985del	GRCh37
NC_000008.9:g.42146139_42146142del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*403_*406del MANE Select	ENSP00000380132.3:n.*403_*406del
ENST00000174653.3:c.*403_*406del	ENSP00000174653.3:n.*403_*406del
ENST00000396926.7:c.*403_*406del	ENSP00000380132.3:n.*403_*406del
ENST00000518421.5:c.*403_*406del	ENSP00000428787.1:n.*403_*406del
ENST00000520689.1:c.371+179_371+182del	ENSP00000429804.1:n.371+179_371+182del
NM_001134296.1:c.*403_*406del	NP_001127768.1:n.*403_*406del
NM_006803.3:c.*403_*406del	NP_006794.1:n.*403_*406del
XM_017012977.2:c.*403_*406del	XP_016868466.1:n.*403_*406del
XR_001745459.2:n.1945_1948del
NM_006803.4:c.*403_*406del MANE Select	NP_006794.1:n.*403_*406del
NM_001134296.2:c.*403_*406del	NP_001127768.1:n.*403_*406del