Canonical Allele Identifier: CA1620010181

Gene: SYNGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432706_33432707delinsCT , CM000668.2:g.33432706_33432707delinsCT	GRCh38
NC_000006.11:g.33400483_33400484delinsCT , CM000668.1:g.33400483_33400484delinsCT	GRCh37
NC_000006.10:g.33508461_33508462delinsCT	NCBI36
NG_016137.1:g.17637_17638delinsCT
NG_016137.2:g.17637_17638delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.151_152delinsCT	ENSP00000507403.1:p.Leu51=
ENST00000418600.7:c.409_410delinsCT	ENSP00000403636.3:p.Leu137=
ENST00000449372.7:c.409_410delinsCT	ENSP00000416519.4:p.Leu137=
ENST00000629380.3:c.409_410delinsCT	ENSP00000486463.1:p.Leu137=
ENST00000638142.2:c.409_410delinsCT	ENSP00000490803.1:p.Leu137=
ENST00000644458.1:c.409_410delinsCT	ENSP00000495541.1:p.Leu137=
ENST00000645250.1:c.232_233delinsCT	ENSP00000494861.1:p.Leu78=
ENST00000646630.1:c.409_410delinsCT MANE Select	ENSP00000496007.1:p.Leu137=
ENST00000293748.9:c.364_365delinsCT	ENSP00000293748.6:p.Leu122=
ENST00000418600.6:c.409_410delinsCT	ENSP00000403636.3:p.Leu137=
ENST00000428982.4:c.232_233delinsCT	ENSP00000412475.2:p.Leu78=
ENST00000449372.6:c.409_410delinsCT	ENSP00000416519.3:p.Leu137=
ENST00000479510.2:n.604_605delinsCT
ENST00000628646.2:c.409_410delinsCT	ENSP00000486431.1:p.Leu137=
ENST00000629380.2:c.409_410delinsCT	ENSP00000486463.1:p.Leu137=
NM_006772.2:c.409_410delinsCT	NP_006763.2:p.Leu137=
NM_001130066.1:c.409_410delinsCT	NP_001123538.1:p.Leu137=
NM_001130066.2:c.409_410delinsCT	NP_001123538.1:p.Leu137=
NM_006772.3:c.409_410delinsCT MANE Select	NP_006763.2:p.Leu137=