Canonical Allele Identifier: CA1779304554

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169515_42169517delinsAAG , CM000670.2:g.42169515_42169517delinsAAG	GRCh38
NC_000008.10:g.42027033_42027035delinsAAG , CM000670.1:g.42027033_42027035delinsAAG	GRCh37
NC_000008.9:g.42146190_42146192delinsAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*454_*456delinsAAG MANE Select	ENSP00000380132.3:n.*454_*456delinsAAG
ENST00000174653.3:c.*454_*456delinsAAG	ENSP00000174653.3:n.*454_*456delinsAAG
ENST00000396926.7:c.*454_*456delinsAAG	ENSP00000380132.3:n.*454_*456delinsAAG
ENST00000518421.5:c.*454_*456delinsAAG	ENSP00000428787.1:n.*454_*456delinsAAG
ENST00000520689.1:c.371+230_371+232delinsAAG	ENSP00000429804.1:n.371+230_371+232delinsAAG
NM_001134296.1:c.*454_*456delinsAAG	NP_001127768.1:n.*454_*456delinsAAG
NM_006803.3:c.*454_*456delinsAAG	NP_006794.1:n.*454_*456delinsAAG
XM_017012977.2:c.*454_*456delinsAAG	XP_016868466.1:n.*454_*456delinsAAG
XR_001745459.2:n.1996_1998delinsAAG
NM_006803.4:c.*454_*456delinsAAG MANE Select	NP_006794.1:n.*454_*456delinsAAG
NM_001134296.2:c.*454_*456delinsAAG	NP_001127768.1:n.*454_*456delinsAAG