Canonical Allele Identifier: CA234043263
Gene: PDE3A HGNC NCBI

Linked Data

dbSNP Id: rs557549520
gnomAD v2: 12-20521736-T-TGCAGC
gnomAD v3: 12-20368802-T-TGCAGC
gnomAD v4: 12-20368802-T-TGCAGC
MyVariant Identifiers: chr12:g.20521736_20521737insGCAGC (hg19) chr12:g.20368802_20368803insGCAGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.20368815_20368819dup , CM000674.2:g.20368815_20368819dup GRCh38
NC_000012.11:g.20521749_20521753dup , CM000674.1:g.20521749_20521753dup GRCh37
NC_000012.10:g.20413016_20413020dup NCBI36
NG_030033.1:g.4571_4575dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000359062.4:c.-470_-466dup MANE Select ENSP00000351957.3:n.-470_-466dup
XM_006719086.2:c.-470_-466dup XP_006719149.2:n.-470_-466dup
NM_000921.5:c.-470_-466dup MANE Select NP_000912.3:n.-470_-466dup
NM_001378407.1:c.-470_-466dup NP_001365336.1:n.-470_-466dup
NM_001378408.1:c.-1498_-1494dup NP_001365337.1:n.-1498_-1494dup
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