Canonical Allele Identifier: CA2687083826

Gene: AP3M2

Linked Data

• gnomAD v4: 8-42169294-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169299dup , CM000670.2:g.42169299dup	GRCh38
NC_000008.10:g.42026817dup , CM000670.1:g.42026817dup	GRCh37
NC_000008.9:g.42145974dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*238dup MANE Select	ENSP00000380132.3:n.*238dup
ENST00000174653.3:c.*238dup	ENSP00000174653.3:n.*238dup
ENST00000396926.7:c.*238dup	ENSP00000380132.3:n.*238dup
ENST00000518421.5:c.*238dup	ENSP00000428787.1:n.*238dup
ENST00000520689.1:c.371+14dup	ENSP00000429804.1:n.371+14dup
NM_001134296.1:c.*238dup	NP_001127768.1:n.*238dup
NM_006803.3:c.*238dup	NP_006794.1:n.*238dup
XM_017012977.2:c.*238dup	XP_016868466.1:n.*238dup
XR_001745459.2:n.1780dup
NM_006803.4:c.*238dup MANE Select	NP_006794.1:n.*238dup
NM_001134296.2:c.*238dup	NP_001127768.1:n.*238dup