Canonical Allele Identifier: CA2687083845

Gene: AP3M2

Linked Data

• gnomAD v4: 8-42169322-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169322_42169323insTG , CM000670.2:g.42169322_42169323insTG	GRCh38
NC_000008.10:g.42026840_42026841insTG , CM000670.1:g.42026840_42026841insTG	GRCh37
NC_000008.9:g.42145997_42145998insTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*261_*262insTG MANE Select	ENSP00000380132.3:n.*261_*262insTG
ENST00000174653.3:c.*261_*262insTG	ENSP00000174653.3:n.*261_*262insTG
ENST00000396926.7:c.*261_*262insTG	ENSP00000380132.3:n.*261_*262insTG
ENST00000518421.5:c.*261_*262insTG	ENSP00000428787.1:n.*261_*262insTG
ENST00000520689.1:c.371+37_371+38insTG	ENSP00000429804.1:n.371+37_371+38insTG
NM_001134296.1:c.*261_*262insTG	NP_001127768.1:n.*261_*262insTG
NM_006803.3:c.*261_*262insTG	NP_006794.1:n.*261_*262insTG
XM_017012977.2:c.*261_*262insTG	XP_016868466.1:n.*261_*262insTG
XR_001745459.2:n.1803_1804insTG
NM_006803.4:c.*261_*262insTG MANE Select	NP_006794.1:n.*261_*262insTG
NM_001134296.2:c.*261_*262insTG	NP_001127768.1:n.*261_*262insTG