Canonical Allele Identifier: CA645369323

Gene: SYNGAP1

Linked Data

• ClinVar Variation Id: 430456
• ClinVar RCV Id: RCV000493489 ; RCV000624491 ; RCV000689750 ; RCV001265345
• dbSNP Id: rs1131691979
• MyVariant Identifiers: chr6:g.33399975del (hg19) ; chr6:g.33432198del (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:25418537 ; PMID:25533962 ; PMID:26079862 ; PMID:26989088 ; PMID:27827368 ; PMID:28576131

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432198del , CM000668.2:g.33432198del	GRCh38
NC_000006.11:g.33399975del , CM000668.1:g.33399975del	GRCh37
NC_000006.10:g.33507953del	NCBI36
NG_016137.1:g.17129del
NG_016137.2:g.17129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.75del	ENSP00000507403.1:p.Lys28SerfsTer20
ENST00000418600.7:c.333del	ENSP00000403636.3:p.Lys114SerfsTer20
ENST00000449372.7:c.333del	ENSP00000416519.4:p.Lys114SerfsTer20
ENST00000629380.3:c.333del	ENSP00000486463.1:p.Lys114SerfsTer20
ENST00000636731.1:n.95del
ENST00000636905.1:c.75del	ENSP00000489938.1:p.Pro25=
ENST00000637721.1:n.136del
ENST00000638142.2:c.333del	ENSP00000490803.1:p.Lys114SerfsTer20
ENST00000644458.1:c.333del	ENSP00000495541.1:p.Lys114SerfsTer20
ENST00000645250.1:c.156del	ENSP00000494861.1:p.Lys55SerfsTer20
ENST00000646630.1:c.333del MANE Select	ENSP00000496007.1:p.Lys114SerfsTer20
ENST00000293748.9:c.288del	ENSP00000293748.6:p.Lys99SerfsTer20
ENST00000418600.6:c.333del	ENSP00000403636.3:p.Lys114SerfsTer20
ENST00000428982.4:c.156del	ENSP00000412475.2:p.Lys55SerfsTer20
ENST00000449372.6:c.333del	ENSP00000416519.3:p.Lys114SerfsTer20
ENST00000479510.2:n.528del
ENST00000628646.2:c.333del	ENSP00000486431.1:p.Lys114SerfsTer20
ENST00000629380.2:c.333del	ENSP00000486463.1:p.Lys114SerfsTer20
NM_006772.2:c.333del	NP_006763.2:p.Lys114SerfsTer20
NM_001130066.1:c.333del	NP_001123538.1:p.Lys114SerfsTer20
NM_001130066.2:c.333del	NP_001123538.1:p.Lys114SerfsTer20
NM_006772.3:c.333del MANE Select	NP_006763.2:p.Lys114SerfsTer20