Canonical Allele Identifier: CA2687084003

Gene: AP3M2

Linked Data

• gnomAD v4: 8-42169510-G-GTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169510_42169511insTCC , CM000670.2:g.42169510_42169511insTCC	GRCh38
NC_000008.10:g.42027028_42027029insTCC , CM000670.1:g.42027028_42027029insTCC	GRCh37
NC_000008.9:g.42146185_42146186insTCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*449_*450insTCC MANE Select	ENSP00000380132.3:n.*449_*450insTCC
ENST00000174653.3:c.*449_*450insTCC	ENSP00000174653.3:n.*449_*450insTCC
ENST00000396926.7:c.*449_*450insTCC	ENSP00000380132.3:n.*449_*450insTCC
ENST00000518421.5:c.*449_*450insTCC	ENSP00000428787.1:n.*449_*450insTCC
ENST00000520689.1:c.371+225_371+226insTCC	ENSP00000429804.1:n.371+225_371+226insTCC
NM_001134296.1:c.*449_*450insTCC	NP_001127768.1:n.*449_*450insTCC
NM_006803.3:c.*449_*450insTCC	NP_006794.1:n.*449_*450insTCC
XM_017012977.2:c.*449_*450insTCC	XP_016868466.1:n.*449_*450insTCC
XR_001745459.2:n.1991_1992insTCC
NM_006803.4:c.*449_*450insTCC MANE Select	NP_006794.1:n.*449_*450insTCC
NM_001134296.2:c.*449_*450insTCC	NP_001127768.1:n.*449_*450insTCC