Canonical Allele Identifier: CA2687084001

Gene: AP3M2

Linked Data

• gnomAD v4: 8-42169507-G-GATTCACCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169507_42169508insATTCACCTT , CM000670.2:g.42169507_42169508insATTCACCTT	GRCh38
NC_000008.10:g.42027025_42027026insATTCACCTT , CM000670.1:g.42027025_42027026insATTCACCTT	GRCh37
NC_000008.9:g.42146182_42146183insATTCACCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*446_*447insATTCACCTT MANE Select	ENSP00000380132.3:n.*446_*447insATTCACCTT
ENST00000174653.3:c.*446_*447insATTCACCTT	ENSP00000174653.3:n.*446_*447insATTCACCTT
ENST00000396926.7:c.*446_*447insATTCACCTT	ENSP00000380132.3:n.*446_*447insATTCACCTT
ENST00000518421.5:c.*446_*447insATTCACCTT	ENSP00000428787.1:n.*446_*447insATTCACCTT
ENST00000520689.1:c.371+222_371+223insATTCACCTT	ENSP00000429804.1:n.371+222_371+223insATTCACCTT
NM_001134296.1:c.*446_*447insATTCACCTT	NP_001127768.1:n.*446_*447insATTCACCTT
NM_006803.3:c.*446_*447insATTCACCTT	NP_006794.1:n.*446_*447insATTCACCTT
XM_017012977.2:c.*446_*447insATTCACCTT	XP_016868466.1:n.*446_*447insATTCACCTT
XR_001745459.2:n.1988_1989insATTCACCTT
NM_006803.4:c.*446_*447insATTCACCTT MANE Select	NP_006794.1:n.*446_*447insATTCACCTT
NM_001134296.2:c.*446_*447insATTCACCTT	NP_001127768.1:n.*446_*447insATTCACCTT