Canonical Allele Identifier: CA945443466

Gene: PDE3A

Linked Data

• dbSNP Id: rs1943394204
• gnomAD v3: 12-20368732-AAG-A
• gnomAD v4: 12-20368732-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.20368735_20368736del , CM000674.2:g.20368735_20368736del	GRCh38
NC_000012.11:g.20521669_20521670del , CM000674.1:g.20521669_20521670del	GRCh37
NC_000012.10:g.20412936_20412937del	NCBI36
NG_030033.1:g.4491_4492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359062.4:c.-550_-549del MANE Select	ENSP00000351957.3:n.-550_-549del
XM_006719086.2:c.-550_-549del	XP_006719149.2:n.-550_-549del
NM_000921.5:c.-550_-549del MANE Select	NP_000912.3:n.-550_-549del
NM_001378407.1:c.-550_-549del	NP_001365336.1:n.-550_-549del
NM_001378408.1:c.-1578_-1577del	NP_001365337.1:n.-1578_-1577del