Canonical Allele Identifier: CA1113194649

Gene: AP3M2

Linked Data

• dbSNP Id: rs1804733262
• gnomAD v3: 8-42169403-ACTT-A
• gnomAD v4: 8-42169403-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169407_42169409del , CM000670.2:g.42169407_42169409del	GRCh38
NC_000008.10:g.42026925_42026927del , CM000670.1:g.42026925_42026927del	GRCh37
NC_000008.9:g.42146082_42146084del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*346_*348del MANE Select	ENSP00000380132.3:n.*346_*348del
ENST00000174653.3:c.*346_*348del	ENSP00000174653.3:n.*346_*348del
ENST00000396926.7:c.*346_*348del	ENSP00000380132.3:n.*346_*348del
ENST00000518421.5:c.*346_*348del	ENSP00000428787.1:n.*346_*348del
ENST00000520689.1:c.371+122_371+124del	ENSP00000429804.1:n.371+122_371+124del
NM_001134296.1:c.*346_*348del	NP_001127768.1:n.*346_*348del
NM_006803.3:c.*346_*348del	NP_006794.1:n.*346_*348del
XM_017012977.2:c.*346_*348del	XP_016868466.1:n.*346_*348del
XR_001745459.2:n.1888_1890del
NM_006803.4:c.*346_*348del MANE Select	NP_006794.1:n.*346_*348del
NM_001134296.2:c.*346_*348del	NP_001127768.1:n.*346_*348del