Canonical Allele Identifier: CA573494017

Gene: PDE1C

Linked Data

• dbSNP Id: rs1189205463
• gnomAD v2: 7-32444173-CTG-C
• gnomAD v3: 7-32404561-CTG-C
• gnomAD v4: 7-32404561-CTG-C
• MyVariant Identifiers: chr7:g.32444174_32444175del (hg19) ; chr7:g.32404562_32404563del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.32404563_32404564del , CM000669.2:g.32404563_32404564del	GRCh38
NC_000007.13:g.32444175_32444176del , CM000669.1:g.32444175_32444176del	GRCh37
NC_000007.12:g.32410700_32410701del	NCBI36
NG_051183.1:g.28662_28663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000672256.1:c.310+23259_310+23260del	ENSP00000499831.1:n.310+23259_310+23260del
NM_001322059.1:c.310+23259_310+23260del	NP_001308988.1:n.310+23259_310+23260del
NM_001322059.2:c.310+23259_310+23260del	NP_001308988.1:n.310+23259_310+23260del