Canonical Allele Identifier: CA1099942824

Gene: PDE1C

Linked Data

• dbSNP Id: rs1809440754
• gnomAD v3: 7-32252148-CTTA-C
• gnomAD v4: 7-32252148-CTTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.32252149_32252151del , CM000669.2:g.32252149_32252151del	GRCh38
NC_000007.13:g.32291761_32291763del , CM000669.1:g.32291761_32291763del	GRCh37
NC_000007.12:g.32258286_32258288del	NCBI36
NG_051183.1:g.181074_181076del

Transcript Alleles

HGVS	Amino-acid change
ENST00000672256.1:c.311-42612_311-42610del	ENSP00000499831.1:n.311-42612_311-42610de...
ENST00000396193.5:c.86-42612_86-42610del	ENSP00000379496.1:n.86-42612_86-42610del
NM_001191058.2:c.86-42612_86-42610del	NP_001177987.2:n.86-42612_86-42610del
XM_005249768.3:c.86-42612_86-42610del	XP_005249825.2:n.86-42612_86-42610del
XM_011515410.1:c.86-42612_86-42610del	XP_011513712.1:n.86-42612_86-42610del
XM_011515411.1:c.86-42612_86-42610del	XP_011513713.1:n.86-42612_86-42610del
XM_011515414.1:c.86-42612_86-42610del	XP_011513716.1:n.86-42612_86-42610del
NM_001191058.3:c.86-42612_86-42610del	NP_001177987.2:n.86-42612_86-42610del
NM_001322058.1:c.86-42612_86-42610del	NP_001308987.1:n.86-42612_86-42610del
NM_001322059.1:c.311-42612_311-42610del	NP_001308988.1:n.311-42612_311-42610del
XM_017012264.1:c.190+41108_190+41110del	XP_016867753.1:n.190+41108_190+41110del
XM_017012265.1:c.25+6726_25+6728del	XP_016867754.1:n.25+6726_25+6728del
XM_017012266.1:c.190+41108_190+41110del	XP_016867755.1:n.190+41108_190+41110del
XR_001744802.1:n.205+41108_205+41110del
XR_001744803.1:n.205+41108_205+41110del
XR_001744804.1:n.205+41108_205+41110del
XR_001744805.1:n.205+41108_205+41110del
NM_001191058.4:c.86-42612_86-42610del	NP_001177987.2:n.86-42612_86-42610del
NM_001322058.2:c.86-42612_86-42610del	NP_001308987.1:n.86-42612_86-42610del
NM_001322059.2:c.311-42612_311-42610del	NP_001308988.1:n.311-42612_311-42610del