Canonical Allele Identifier: CA2687083932

Gene: AP3M2

Linked Data

• gnomAD v4: 8-42169454-GAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169457_42169460del , CM000670.2:g.42169457_42169460del	GRCh38
NC_000008.10:g.42026975_42026978del , CM000670.1:g.42026975_42026978del	GRCh37
NC_000008.9:g.42146132_42146135del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*396_*399del MANE Select	ENSP00000380132.3:n.*396_*399del
ENST00000174653.3:c.*396_*399del	ENSP00000174653.3:n.*396_*399del
ENST00000396926.7:c.*396_*399del	ENSP00000380132.3:n.*396_*399del
ENST00000518421.5:c.*396_*399del	ENSP00000428787.1:n.*396_*399del
ENST00000520689.1:c.371+172_371+175del	ENSP00000429804.1:n.371+172_371+175del
NM_001134296.1:c.*396_*399del	NP_001127768.1:n.*396_*399del
NM_006803.3:c.*396_*399del	NP_006794.1:n.*396_*399del
XM_017012977.2:c.*396_*399del	XP_016868466.1:n.*396_*399del
XR_001745459.2:n.1938_1941del
NM_006803.4:c.*396_*399del MANE Select	NP_006794.1:n.*396_*399del
NM_001134296.2:c.*396_*399del	NP_001127768.1:n.*396_*399del