Canonical Allele Identifier: CA2779876789

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169336_42169338del , CM000670.2:g.42169336_42169338del	GRCh38
NC_000008.10:g.42026854_42026856del , CM000670.1:g.42026854_42026856del	GRCh37
NC_000008.9:g.42146011_42146013del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*275_*277del MANE Select	ENSP00000380132.3:n.*275_*277del
ENST00000174653.3:c.*275_*277del	ENSP00000174653.3:n.*275_*277del
ENST00000396926.7:c.*275_*277del	ENSP00000380132.3:n.*275_*277del
ENST00000518421.5:c.*275_*277del	ENSP00000428787.1:n.*275_*277del
ENST00000520689.1:c.371+51_371+53del	ENSP00000429804.1:n.371+51_371+53del
NM_001134296.1:c.*275_*277del	NP_001127768.1:n.*275_*277del
NM_006803.3:c.*275_*277del	NP_006794.1:n.*275_*277del
XM_017012977.2:c.*275_*277del	XP_016868466.1:n.*275_*277del
XR_001745459.2:n.1817_1819del
NM_006803.4:c.*275_*277del MANE Select	NP_006794.1:n.*275_*277del
NM_001134296.2:c.*275_*277del	NP_001127768.1:n.*275_*277del