Canonical Allele Identifier: CA581596377

Gene: AP3M2

Linked Data

• dbSNP Id: rs1237004315
• gnomAD v2: 8-42026814-G-GA
• gnomAD v3: 8-42169296-G-GA
• gnomAD v4: 8-42169296-G-GA
• MyVariant Identifiers: chr8:g.42026814_42026815insA (hg19) ; chr8:g.42169296_42169297insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169296_42169297insA , CM000670.2:g.42169296_42169297insA	GRCh38
NC_000008.10:g.42026814_42026815insA , CM000670.1:g.42026814_42026815insA	GRCh37
NC_000008.9:g.42145971_42145972insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*235_*236insA MANE Select	ENSP00000380132.3:n.*235_*236insA
ENST00000174653.3:c.*235_*236insA	ENSP00000174653.3:n.*235_*236insA
ENST00000396926.7:c.*235_*236insA	ENSP00000380132.3:n.*235_*236insA
ENST00000518421.5:c.*235_*236insA	ENSP00000428787.1:n.*235_*236insA
ENST00000520689.1:c.371+11_371+12insA	ENSP00000429804.1:n.371+11_371+12insA
NM_001134296.1:c.*235_*236insA	NP_001127768.1:n.*235_*236insA
NM_006803.3:c.*235_*236insA	NP_006794.1:n.*235_*236insA
XM_017012977.2:c.*235_*236insA	XP_016868466.1:n.*235_*236insA
XR_001745459.2:n.1777_1778insA
NM_006803.4:c.*235_*236insA MANE Select	NP_006794.1:n.*235_*236insA
NM_001134296.2:c.*235_*236insA	NP_001127768.1:n.*235_*236insA