Canonical Allele Identifier: CA2687083844

Gene: AP3M2

Linked Data

• gnomAD v4: 8-42169321-A-ATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169321_42169322insTTTT , CM000670.2:g.42169321_42169322insTTTT	GRCh38
NC_000008.10:g.42026839_42026840insTTTT , CM000670.1:g.42026839_42026840insTTTT	GRCh37
NC_000008.9:g.42145996_42145997insTTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*260_*261insTTTT MANE Select	ENSP00000380132.3:n.*260_*261insTTTT
ENST00000174653.3:c.*260_*261insTTTT	ENSP00000174653.3:n.*260_*261insTTTT
ENST00000396926.7:c.*260_*261insTTTT	ENSP00000380132.3:n.*260_*261insTTTT
ENST00000518421.5:c.*260_*261insTTTT	ENSP00000428787.1:n.*260_*261insTTTT
ENST00000520689.1:c.371+36_371+37insTTTT	ENSP00000429804.1:n.371+36_371+37insTTTT
NM_001134296.1:c.*260_*261insTTTT	NP_001127768.1:n.*260_*261insTTTT
NM_006803.3:c.*260_*261insTTTT	NP_006794.1:n.*260_*261insTTTT
XM_017012977.2:c.*260_*261insTTTT	XP_016868466.1:n.*260_*261insTTTT
XR_001745459.2:n.1802_1803insTTTT
NM_006803.4:c.*260_*261insTTTT MANE Select	NP_006794.1:n.*260_*261insTTTT
NM_001134296.2:c.*260_*261insTTTT	NP_001127768.1:n.*260_*261insTTTT