Canonical Allele Identifier: CA603813032
Gene: PDE3A HGNC NCBI

Linked Data

dbSNP Id: rs1484582302
gnomAD v2: 12-20521658-GAGAA-G
gnomAD v3: 12-20368724-GAGAA-G
gnomAD v4: 12-20368724-GAGAA-G
MyVariant Identifiers: chr12:g.20521659_20521662del (hg19) chr12:g.20368725_20368728del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.20368732_20368735del , CM000674.2:g.20368732_20368735del GRCh38
NC_000012.11:g.20521666_20521669del , CM000674.1:g.20521666_20521669del GRCh37
NC_000012.10:g.20412933_20412936del NCBI36
NG_030033.1:g.4488_4491del

Transcript Alleles

HGVS Amino-acid Change
ENST00000359062.4:c.-553_-550del MANE Select ENSP00000351957.3:n.-553_-550del
XM_006719086.2:c.-553_-550del XP_006719149.2:n.-553_-550del
NM_000921.5:c.-553_-550del MANE Select NP_000912.3:n.-553_-550del
NM_001378407.1:c.-553_-550del NP_001365336.1:n.-553_-550del
NM_001378408.1:c.-1581_-1578del NP_001365337.1:n.-1581_-1578del
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