Allele Registry

Canonical Allele Identifier: CA236444

Gene: SYNGAP1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.33435176del

GRCh37 chr6:g.33402953del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000171521

ClinVar Variation:

191329

dbSNP:

786205649

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33435177del , CM000668.2:g.33435177del	GRCh38
NC_000006.11:g.33402954del , CM000668.1:g.33402954del	GRCh37
NC_000006.10:g.33510932del	NCBI36
NG_016137.1:g.20108del
NG_016137.2:g.20108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.277del	ENSP00000507403.1:p.Glu93SerfsTer9
ENST00000418600.7:c.535del	ENSP00000403636.3:p.Glu179SerfsTer9
ENST00000449372.7:c.535del	ENSP00000416519.4:p.Glu179SerfsTer9
ENST00000629380.3:c.535del	ENSP00000486463.1:p.Glu179SerfsTer9
ENST00000638142.2:c.535del	ENSP00000490803.1:p.Glu179SerfsTer9
ENST00000644458.1:c.535del	ENSP00000495541.1:p.Glu179SerfsTer9
ENST00000645250.1:c.358del	ENSP00000494861.1:p.Glu120SerfsTer9
ENST00000646630.1:c.535del MANE Select	ENSP00000496007.1:p.Glu179SerfsTer9
ENST00000293748.9:c.490del	ENSP00000293748.6:p.Glu164SerfsTer9
ENST00000418600.6:c.535del	ENSP00000403636.3:p.Glu179SerfsTer9
ENST00000428982.4:c.358del	ENSP00000412475.2:p.Glu120SerfsTer9
ENST00000449372.6:c.535del	ENSP00000416519.3:p.Glu179SerfsTer9
ENST00000479510.2:n.730del
ENST00000628646.2:c.535del	ENSP00000486431.1:p.Glu179SerfsTer9
ENST00000629380.2:c.535del	ENSP00000486463.1:p.Glu179SerfsTer9
NM_006772.2:c.535del	NP_006763.2:p.Glu179SerfsTer9
NM_001130066.1:c.535del	NP_001123538.1:p.Glu179SerfsTer9
NM_001130066.2:c.535del	NP_001123538.1:p.Glu179SerfsTer9
NM_006772.3:c.535del MANE Select	NP_006763.2:p.Glu179SerfsTer9

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