Canonical Allele Identifier: CA2573052678

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 1333371
• ClinVar RCV Id: RCV001808059
• dbSNP Id: rs2151168593

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33437752del , CM000668.2:g.33437752del	GRCh38
NC_000006.11:g.33405529del , CM000668.1:g.33405529del	GRCh37
NC_000006.10:g.33513507del	NCBI36
NG_016137.1:g.22683del
NG_016137.2:g.22683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.589del (SYNGAP1)	ENSP00000507403.1:p.Glu197SerfsTer?
ENST00000418600.7:c.847del (SYNGAP1)	ENSP00000403636.3:p.Glu283SerfsTer?
ENST00000449372.7:c.847del (SYNGAP1)	ENSP00000416519.4:p.Glu283SerfsTer?
ENST00000629380.3:c.847del (SYNGAP1)	ENSP00000486463.1:p.Glu283SerfsTer?
ENST00000638142.2:c.847del (SYNGAP1)	ENSP00000490803.1:p.Glu283SerfsTer?
ENST00000644458.1:c.847del (SYNGAP1)	ENSP00000495541.1:p.Glu283SerfsTer?
ENST00000645250.1:c.670del (SYNGAP1)	ENSP00000494861.1:p.Glu224SerfsTer?
ENST00000646630.1:c.847del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Glu283SerfsTer?
ENST00000293748.9:c.802del (SYNGAP1)	ENSP00000293748.6:p.Glu268SerfsTer?
ENST00000418600.6:c.847del (SYNGAP1)	ENSP00000403636.3:p.Glu283SerfsTer?
ENST00000428982.4:c.670del (SYNGAP1)	ENSP00000412475.2:p.Glu224SerfsTer?
ENST00000449372.6:c.847del (SYNGAP1)	ENSP00000416519.3:p.Glu283SerfsTer?
ENST00000479510.2:n.1042del (SYNGAP1)
ENST00000628646.2:c.847del (SYNGAP1)	ENSP00000486431.1:p.Glu283SerfsTer?
ENST00000629380.2:c.847del (SYNGAP1)	ENSP00000486463.1:p.Glu283SerfsTer?
NM_006772.2:c.847del (SYNGAP1)	NP_006763.2:p.Glu283SerfsTer?
NM_001130066.1:c.847del (SYNGAP1)	NP_001123538.1:p.Glu283SerfsTer?
NM_001130066.2:c.847del (SYNGAP1)	NP_001123538.1:p.Glu283SerfsTer?
NM_006772.3:c.847del (SYNGAP1) MANE Select	NP_006763.2:p.Glu283SerfsTer?
NR_174954.1:n.330-271del (SYNGAP1-AS1)