Canonical Allele Identifier: CA2687083993

Gene: AP3M2

Linked Data

• gnomAD v4: 8-42169500-C-CCATACA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169500_42169501insCATACA , CM000670.2:g.42169500_42169501insCATACA	GRCh38
NC_000008.10:g.42027018_42027019insCATACA , CM000670.1:g.42027018_42027019insCATACA	GRCh37
NC_000008.9:g.42146175_42146176insCATACA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*439_*440insCATACA MANE Select	ENSP00000380132.3:n.*439_*440insCATACA
ENST00000174653.3:c.*439_*440insCATACA	ENSP00000174653.3:n.*439_*440insCATACA
ENST00000396926.7:c.*439_*440insCATACA	ENSP00000380132.3:n.*439_*440insCATACA
ENST00000518421.5:c.*439_*440insCATACA	ENSP00000428787.1:n.*439_*440insCATACA
ENST00000520689.1:c.371+215_371+216insCATACA	ENSP00000429804.1:n.371+215_371+216insCATACA
NM_001134296.1:c.*439_*440insCATACA	NP_001127768.1:n.*439_*440insCATACA
NM_006803.3:c.*439_*440insCATACA	NP_006794.1:n.*439_*440insCATACA
XM_017012977.2:c.*439_*440insCATACA	XP_016868466.1:n.*439_*440insCATACA
XR_001745459.2:n.1981_1982insCATACA
NM_006803.4:c.*439_*440insCATACA MANE Select	NP_006794.1:n.*439_*440insCATACA
NM_001134296.2:c.*439_*440insCATACA	NP_001127768.1:n.*439_*440insCATACA