Canonical Allele Identifier: CA156691415
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs145888147
gnomAD v2: 7-32376655-ACT-A
gnomAD v3: 7-32337043-ACT-A
gnomAD v4: 7-32337043-ACT-A
COSMIC: COSN23032185 COSN23228650 COSN24886632
MyVariant Identifiers: chr7:g.32376658_32376659del (hg19) chr7:g.32376656_32376657del (hg19) chr7:g.32337046_32337047del (hg38) chr7:g.32337044_32337045del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32337060_32337061del , CM000669.2:g.32337060_32337061del GRCh38
NC_000007.13:g.32376672_32376673del , CM000669.1:g.32376672_32376673del GRCh37
NC_000007.12:g.32343197_32343198del NCBI36
NG_051183.1:g.96180_96181del

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+90777_310+90778del ENSP00000499831.1:n.310+90777_310+90778del
NM_001322059.1:c.310+90777_310+90778del NP_001308988.1:n.310+90777_310+90778del
NM_001322059.2:c.310+90777_310+90778del NP_001308988.1:n.310+90777_310+90778del
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