Canonical Allele Identifier: CA945443493

Gene: PDE3A

Linked Data

• dbSNP Id: rs1943395313
• gnomAD v3: 12-20368801-CTGCA-C
• gnomAD v4: 12-20368801-CTGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.20368802_20368805del , CM000674.2:g.20368802_20368805del	GRCh38
NC_000012.11:g.20521736_20521739del , CM000674.1:g.20521736_20521739del	GRCh37
NC_000012.10:g.20413003_20413006del	NCBI36
NG_030033.1:g.4558_4561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359062.4:c.-483_-480del MANE Select	ENSP00000351957.3:n.-483_-480del
XM_006719086.2:c.-483_-480del	XP_006719149.2:n.-483_-480del
NM_000921.5:c.-483_-480del MANE Select	NP_000912.3:n.-483_-480del
NM_001378407.1:c.-483_-480del	NP_001365336.1:n.-483_-480del
NM_001378408.1:c.-1511_-1508del	NP_001365337.1:n.-1511_-1508del