×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1099966512
Gene: PDE1C
HGNC
NCBI
Linked Data
dbSNP Id:
rs1785022105
gnomAD v3:
7-32404969-GGTTT-G
gnomAD v4:
7-32404969-GGTTT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.32404970_32404973del , CM000669.2:g.32404970_32404973del
GRCh38
NC_000007.13:g.32444582_32444585del , CM000669.1:g.32444582_32444585del
GRCh37
NC_000007.12:g.32411107_32411110del
NCBI36
NG_051183.1:g.28252_28255del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000672256.1:c.310+22849_310+22852del
ENSP00000499831.1:n.310+22849_310+22852del
NM_001322059.1:c.310+22849_310+22852del
NP_001308988.1:n.310+22849_310+22852del
NM_001322059.2:c.310+22849_310+22852del
NP_001308988.1:n.310+22849_310+22852del
Search 100 bp 5'
Search 100 bp 3'