Canonical Allele Identifier: CA837670900

Gene: PDE1C

Linked Data

• dbSNP Id: rs1415595074
• gnomAD v3: 7-32337119-TCCCTA-T
• gnomAD v4: 7-32337119-TCCCTA-T
• MyVariant Identifiers: chr7:g.32376732_32376736del (hg19) ; chr7:g.32337120_32337124del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.32337122_32337126del , CM000669.2:g.32337122_32337126del	GRCh38
NC_000007.13:g.32376734_32376738del , CM000669.1:g.32376734_32376738del	GRCh37
NC_000007.12:g.32343259_32343263del	NCBI36
NG_051183.1:g.96101_96105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000672256.1:c.310+90698_310+90702del	ENSP00000499831.1:n.310+90698_310+90702del
NM_001322059.1:c.310+90698_310+90702del	NP_001308988.1:n.310+90698_310+90702del
NM_001322059.2:c.310+90698_310+90702del	NP_001308988.1:n.310+90698_310+90702del