Canonical Allele Identifier: CA2687083996

Gene: AP3M2

Linked Data

• gnomAD v4: 8-42169503-T-TCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169503_42169504insCCA , CM000670.2:g.42169503_42169504insCCA	GRCh38
NC_000008.10:g.42027021_42027022insCCA , CM000670.1:g.42027021_42027022insCCA	GRCh37
NC_000008.9:g.42146178_42146179insCCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*442_*443insCCA MANE Select	ENSP00000380132.3:n.*442_*443insCCA
ENST00000174653.3:c.*442_*443insCCA	ENSP00000174653.3:n.*442_*443insCCA
ENST00000396926.7:c.*442_*443insCCA	ENSP00000380132.3:n.*442_*443insCCA
ENST00000518421.5:c.*442_*443insCCA	ENSP00000428787.1:n.*442_*443insCCA
ENST00000520689.1:c.371+218_371+219insCCA	ENSP00000429804.1:n.371+218_371+219insCCA
NM_001134296.1:c.*442_*443insCCA	NP_001127768.1:n.*442_*443insCCA
NM_006803.3:c.*442_*443insCCA	NP_006794.1:n.*442_*443insCCA
XM_017012977.2:c.*442_*443insCCA	XP_016868466.1:n.*442_*443insCCA
XR_001745459.2:n.1984_1985insCCA
NM_006803.4:c.*442_*443insCCA MANE Select	NP_006794.1:n.*442_*443insCCA
NM_001134296.2:c.*442_*443insCCA	NP_001127768.1:n.*442_*443insCCA