Canonical Allele Identifier: CA1779304543

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169488_42169489delinsTA , CM000670.2:g.42169488_42169489delinsTA	GRCh38
NC_000008.10:g.42027006_42027007delinsTA , CM000670.1:g.42027006_42027007delinsTA	GRCh37
NC_000008.9:g.42146163_42146164delinsTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*427_*428delinsTA MANE Select	ENSP00000380132.3:n.*427_*428delinsTA
ENST00000174653.3:c.*427_*428delinsTA	ENSP00000174653.3:n.*427_*428delinsTA
ENST00000396926.7:c.*427_*428delinsTA	ENSP00000380132.3:n.*427_*428delinsTA
ENST00000518421.5:c.*427_*428delinsTA	ENSP00000428787.1:n.*427_*428delinsTA
ENST00000520689.1:c.371+203_371+204delinsTA	ENSP00000429804.1:n.371+203_371+204delinsTA
NM_001134296.1:c.*427_*428delinsTA	NP_001127768.1:n.*427_*428delinsTA
NM_006803.3:c.*427_*428delinsTA	NP_006794.1:n.*427_*428delinsTA
XM_017012977.2:c.*427_*428delinsTA	XP_016868466.1:n.*427_*428delinsTA
XR_001745459.2:n.1969_1970delinsTA
NM_006803.4:c.*427_*428delinsTA MANE Select	NP_006794.1:n.*427_*428delinsTA
NM_001134296.2:c.*427_*428delinsTA	NP_001127768.1:n.*427_*428delinsTA