Canonical Allele Identifier: CA2565894035

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169471_42169474del , CM000670.2:g.42169471_42169474del	GRCh38
NC_000008.10:g.42026989_42026992del , CM000670.1:g.42026989_42026992del	GRCh37
NC_000008.9:g.42146146_42146149del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*410_*413del MANE Select	ENSP00000380132.3:n.*410_*413del
ENST00000174653.3:c.*410_*413del	ENSP00000174653.3:n.*410_*413del
ENST00000396926.7:c.*410_*413del	ENSP00000380132.3:n.*410_*413del
ENST00000518421.5:c.*410_*413del	ENSP00000428787.1:n.*410_*413del
ENST00000520689.1:c.371+186_371+189del	ENSP00000429804.1:n.371+186_371+189del
NM_001134296.1:c.*410_*413del	NP_001127768.1:n.*410_*413del
NM_006803.3:c.*410_*413del	NP_006794.1:n.*410_*413del
XM_017012977.2:c.*410_*413del	XP_016868466.1:n.*410_*413del
XR_001745459.2:n.1952_1955del
NM_006803.4:c.*410_*413del MANE Select	NP_006794.1:n.*410_*413del
NM_001134296.2:c.*410_*413del	NP_001127768.1:n.*410_*413del