Canonical Allele Identifier: CA16618282
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423642
ClinVar RCV Id: RCV000485030 RCV000624221
dbSNP Id: rs1064796547
MyVariant Identifiers: chr6:g.33411245del (hg19) chr6:g.33443468del (hg38)
PubMed: PMID:15312654 PMID:19196676 PMID:20531469 PMID:21237447 PMID:21376300 PMID:22604720 PMID:23020937 PMID:23033978 PMID:23141534 PMID:23161826 PMID:23708187 PMID:23934111 PMID:24267886 PMID:25533962 PMID:26079862 PMID:26989088 PMID:27827368 PMID:28576131
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33443468del , CM000668.2:g.33443468del GRCh38
NC_000006.11:g.33411245del , CM000668.1:g.33411245del GRCh37
NC_000006.10:g.33519223del NCBI36
NG_016137.1:g.28399del
NG_016137.2:g.28399del

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.2658del (SYNGAP1) ENSP00000507403.1:p.Asp888ThrfsTer?
ENST00000418600.7:c.2916del (SYNGAP1) ENSP00000403636.3:p.Asp974ThrfsTer?
ENST00000449372.7:c.2874del (SYNGAP1) ENSP00000416519.4:p.Asp960ThrfsTer?
ENST00000629380.3:c.2916del (SYNGAP1) ENSP00000486463.1:p.Asp974ThrfsTer?
ENST00000644458.1:c.2916del (SYNGAP1) ENSP00000495541.1:p.Asp974ThrfsTer?
ENST00000645250.1:c.2739del (SYNGAP1) ENSP00000494861.1:p.Asp915ThrfsTer?
ENST00000646630.1:c.2916del (SYNGAP1) MANE Select ENSP00000496007.1:p.Asp974ThrfsTer?
ENST00000293748.9:c.2871del (SYNGAP1) ENSP00000293748.6:p.Asp959ThrfsTer?
ENST00000418600.6:c.2916del (SYNGAP1) ENSP00000403636.3:p.Asp974ThrfsTer?
ENST00000428982.4:c.2739del (SYNGAP1) ENSP00000412475.2:p.Asp915ThrfsTer?
ENST00000449372.6:c.2874del (SYNGAP1) ENSP00000416519.3:p.Asp960ThrfsTer?
ENST00000628646.2:c.2916del (SYNGAP1) ENSP00000486431.1:p.Asp974ThrfsTer?
ENST00000629380.2:c.2916del (SYNGAP1) ENSP00000486463.1:p.Asp974ThrfsTer?
NM_006772.2:c.2916del (SYNGAP1) NP_006763.2:p.Asp974ThrfsTer?
NM_001130066.1:c.2874del (SYNGAP1) NP_001123538.1:p.Asp960ThrfsTer?
NM_001130066.2:c.2874del (SYNGAP1) NP_001123538.1:p.Asp960ThrfsTer?
NM_006772.3:c.2916del (SYNGAP1) MANE Select NP_006763.2:p.Asp974ThrfsTer?
NR_174954.1:n.329+3138del (SYNGAP1-AS1)
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