Canonical Allele Identifier: CA1779304525

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169459_42169463delinsAAATG , CM000670.2:g.42169459_42169463delinsAAATG	GRCh38
NC_000008.10:g.42026977_42026981delinsAAATG , CM000670.1:g.42026977_42026981delinsAAATG	GRCh37
NC_000008.9:g.42146134_42146138delinsAAATG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*398_*402delinsAAATG MANE Select	ENSP00000380132.3:n.*398_*402delinsAAATG
ENST00000174653.3:c.*398_*402delinsAAATG	ENSP00000174653.3:n.*398_*402delinsAAATG
ENST00000396926.7:c.*398_*402delinsAAATG	ENSP00000380132.3:n.*398_*402delinsAAATG
ENST00000518421.5:c.*398_*402delinsAAATG	ENSP00000428787.1:n.*398_*402delinsAAATG
ENST00000520689.1:c.371+174_371+178delinsAAATG	ENSP00000429804.1:n.371+174_371+178delinsAAATG
NM_001134296.1:c.*398_*402delinsAAATG	NP_001127768.1:n.*398_*402delinsAAATG
NM_006803.3:c.*398_*402delinsAAATG	NP_006794.1:n.*398_*402delinsAAATG
XM_017012977.2:c.*398_*402delinsAAATG	XP_016868466.1:n.*398_*402delinsAAATG
XR_001745459.2:n.1940_1944delinsAAATG
NM_006803.4:c.*398_*402delinsAAATG MANE Select	NP_006794.1:n.*398_*402delinsAAATG
NM_001134296.2:c.*398_*402delinsAAATG	NP_001127768.1:n.*398_*402delinsAAATG