Canonical Allele Identifier: CA1981626

Gene: PDE11A PDE11A-AS1

Linked Data

• ClinVar Variation Id: 225431
• ClinVar RCV Id: RCV000490402
• dbSNP Id: rs769235876
• ExAC: 2:178562132 GAGGAC / G
• gnomAD v2: 2-178562132-GAGGAC-G
• gnomAD v3: 2-177697404-GAGGAC-G
• gnomAD v4: 2-177697404-GAGGAC-G
• MyVariant Identifiers: chr2:g.178562133_178562137del (hg19) ; chr2:g.177697405_177697409del (hg38)
• PubMed: PMID:16767104

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177697408_177697412del , CM000664.2:g.177697408_177697412del	GRCh38
NC_000002.11:g.178562136_178562140del , CM000664.1:g.178562136_178562140del	GRCh37
NC_000002.10:g.178270382_178270386del	NCBI36
NG_012168.1:g.415930_415934del
NG_012168.2:g.415931_415935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286063.11:c.2268_2272del (PDE11A) MANE Select	ENSP00000286063.5:p.Ser757GlnfsTer4
ENST00000286063.10:c.2268_2272del (PDE11A)	ENSP00000286063.5:p.Ser757GlnfsTer4
ENST00000358450.8:c.1518_1522del (PDE11A)	ENSP00000351232.4:p.Ser507GlnfsTer4
ENST00000389683.7:c.936_940del (PDE11A)	ENSP00000374333.3:p.Ser313GlnfsTer4
ENST00000409504.5:c.1194_1198del (PDE11A)	ENSP00000386539.1:p.Ser399GlnfsTer4
ENST00000433879.1:c.1091_1095del (PDE11A)
ENST00000497003.5:n.1310_1314del (PDE11A)
NM_001077196.1:c.936_940del (PDE11A)	NP_001070664.1:p.Ser313GlnfsTer4
NM_001077197.1:c.1518_1522del (PDE11A)	NP_001070665.1:p.Ser507GlnfsTer4
NM_001077358.1:c.1194_1198del (PDE11A)	NP_001070826.1:p.Ser399GlnfsTer4
NM_016953.3:c.2268_2272del (PDE11A)	NP_058649.3:p.Ser757GlnfsTer4
NR_136171.1:n.105-1021_105-1017del (PDE11A-AS1)
NM_016953.4:c.2268_2272del (PDE11A) MANE Select	NP_058649.3:p.Ser757GlnfsTer4
NM_001077196.2:c.936_940del (PDE11A)	NP_001070664.1:p.Ser313GlnfsTer4
NM_001077197.2:c.1518_1522del (PDE11A)	NP_001070665.1:p.Ser507GlnfsTer4
NM_001077358.2:c.1194_1198del (PDE11A)	NP_001070826.1:p.Ser399GlnfsTer4