Canonical Allele Identifier: CA1779304668

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169766_42169767delinsAC , CM000670.2:g.42169766_42169767delinsAC	GRCh38
NC_000008.10:g.42027284_42027285delinsAC , CM000670.1:g.42027284_42027285delinsAC	GRCh37
NC_000008.9:g.42146441_42146442delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*705_*706delinsAC MANE Select	ENSP00000380132.3:n.*705_*706delinsAC
ENST00000174653.3:c.*705_*706delinsAC	ENSP00000174653.3:n.*705_*706delinsAC
ENST00000396926.7:c.*705_*706delinsAC	ENSP00000380132.3:n.*705_*706delinsAC
ENST00000518421.5:c.*705_*706delinsAC	ENSP00000428787.1:n.*705_*706delinsAC
ENST00000520689.1:c.372-123_372-122delinsAC	ENSP00000429804.1:n.372-123_372-122delinsAC
NM_001134296.1:c.*705_*706delinsAC	NP_001127768.1:n.*705_*706delinsAC
NM_006803.3:c.*705_*706delinsAC	NP_006794.1:n.*705_*706delinsAC
XM_017012977.2:c.*705_*706delinsAC	XP_016868466.1:n.*705_*706delinsAC
XR_001745459.2:n.2247_2248delinsAC
NM_006803.4:c.*705_*706delinsAC MANE Select	NP_006794.1:n.*705_*706delinsAC
NM_001134296.2:c.*705_*706delinsAC	NP_001127768.1:n.*705_*706delinsAC