Canonical Allele Identifier: CA176004503

Gene: AP3M2

Linked Data

• dbSNP Id: rs898996736
• gnomAD v2: 8-42026944-TAGAA-T
• gnomAD v3: 8-42169426-TAGAA-T
• gnomAD v4: 8-42169426-TAGAA-T
• MyVariant Identifiers: chr8:g.42026945_42026948del (hg19) ; chr8:g.42169427_42169430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169430_42169433del , CM000670.2:g.42169430_42169433del	GRCh38
NC_000008.10:g.42026948_42026951del , CM000670.1:g.42026948_42026951del	GRCh37
NC_000008.9:g.42146105_42146108del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*369_*372del MANE Select	ENSP00000380132.3:n.*369_*372del
ENST00000174653.3:c.*369_*372del	ENSP00000174653.3:n.*369_*372del
ENST00000396926.7:c.*369_*372del	ENSP00000380132.3:n.*369_*372del
ENST00000518421.5:c.*369_*372del	ENSP00000428787.1:n.*369_*372del
ENST00000520689.1:c.371+145_371+148del	ENSP00000429804.1:n.371+145_371+148del
NM_001134296.1:c.*369_*372del	NP_001127768.1:n.*369_*372del
NM_006803.3:c.*369_*372del	NP_006794.1:n.*369_*372del
XM_017012977.2:c.*369_*372del	XP_016868466.1:n.*369_*372del
XR_001745459.2:n.1911_1914del
NM_006803.4:c.*369_*372del MANE Select	NP_006794.1:n.*369_*372del
NM_001134296.2:c.*369_*372del	NP_001127768.1:n.*369_*372del