Canonical Allele Identifier: CA2557288211

Gene: SYNGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432736_33432737del , CM000668.2:g.33432736_33432737del	GRCh38
NC_000006.11:g.33400513_33400514del , CM000668.1:g.33400513_33400514del	GRCh37
NC_000006.10:g.33508491_33508492del	NCBI36
NG_016137.1:g.17667_17668del
NG_016137.2:g.17667_17668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.181_182del	ENSP00000507403.1:p.Gln61ThrfsTer4
ENST00000418600.7:c.439_440del	ENSP00000403636.3:p.Gln147ThrfsTer4
ENST00000449372.7:c.439_440del	ENSP00000416519.4:p.Gln147ThrfsTer4
ENST00000629380.3:c.439_440del	ENSP00000486463.1:p.Gln147ThrfsTer4
ENST00000638142.2:c.439_440del	ENSP00000490803.1:p.Gln147ThrfsTer4
ENST00000644458.1:c.439_440del	ENSP00000495541.1:p.Gln147ThrfsTer4
ENST00000645250.1:c.262_263del	ENSP00000494861.1:p.Gln88ThrfsTer4
ENST00000646630.1:c.439_440del MANE Select	ENSP00000496007.1:p.Gln147ThrfsTer4
ENST00000293748.9:c.394_395del	ENSP00000293748.6:p.Gln132ThrfsTer4
ENST00000418600.6:c.439_440del	ENSP00000403636.3:p.Gln147ThrfsTer4
ENST00000428982.4:c.262_263del	ENSP00000412475.2:p.Gln88ThrfsTer4
ENST00000449372.6:c.439_440del	ENSP00000416519.3:p.Gln147ThrfsTer4
ENST00000479510.2:n.634_635del
ENST00000628646.2:c.439_440del	ENSP00000486431.1:p.Gln147ThrfsTer4
ENST00000629380.2:c.439_440del	ENSP00000486463.1:p.Gln147ThrfsTer4
NM_006772.2:c.439_440del	NP_006763.2:p.Gln147ThrfsTer4
NM_001130066.1:c.439_440del	NP_001123538.1:p.Gln147ThrfsTer4
NM_001130066.2:c.439_440del	NP_001123538.1:p.Gln147ThrfsTer4
NM_006772.3:c.439_440del MANE Select	NP_006763.2:p.Gln147ThrfsTer4