Canonical Allele Identifier: CA851854067

Gene: AP3M2

Linked Data

• dbSNP Id: rs1448423205
• gnomAD v3: 8-42169435-T-TAAA
• gnomAD v4: 8-42169435-T-TAAA
• MyVariant Identifiers: chr8:g.42026953_42026954insAAA (hg19) ; chr8:g.42169435_42169436insAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169438_42169440dup , CM000670.2:g.42169438_42169440dup	GRCh38
NC_000008.10:g.42026956_42026958dup , CM000670.1:g.42026956_42026958dup	GRCh37
NC_000008.9:g.42146113_42146115dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*377_*379dup MANE Select	ENSP00000380132.3:n.*377_*379dup
ENST00000174653.3:c.*377_*379dup	ENSP00000174653.3:n.*377_*379dup
ENST00000396926.7:c.*377_*379dup	ENSP00000380132.3:n.*377_*379dup
ENST00000518421.5:c.*377_*379dup	ENSP00000428787.1:n.*377_*379dup
ENST00000520689.1:c.371+153_371+155dup	ENSP00000429804.1:n.371+153_371+155dup
NM_001134296.1:c.*377_*379dup	NP_001127768.1:n.*377_*379dup
NM_006803.3:c.*377_*379dup	NP_006794.1:n.*377_*379dup
XM_017012977.2:c.*377_*379dup	XP_016868466.1:n.*377_*379dup
XR_001745459.2:n.1919_1921dup
NM_006803.4:c.*377_*379dup MANE Select	NP_006794.1:n.*377_*379dup
NM_001134296.2:c.*377_*379dup	NP_001127768.1:n.*377_*379dup