Canonical Allele Identifier: CA1620013755

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33441324_33441330delinsCTCTCCA , CM000668.2:g.33441324_33441330delinsCTCTCCA	GRCh38
NC_000006.11:g.33409101_33409107delinsCTCTCCA , CM000668.1:g.33409101_33409107delinsCTCTCCA	GRCh37
NC_000006.10:g.33517079_33517085delinsCTCTCCA	NCBI36
NG_016137.1:g.26255_26261delinsCTCTCCA
NG_016137.2:g.26255_26261delinsCTCTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.1807_1813delinsCTCTCCA (SYNGAP1)	ENSP00000507403.1:p.Leu603=
ENST00000418600.7:c.2065_2071delinsCTCTCCA (SYNGAP1)	ENSP00000403636.3:p.Leu689=
ENST00000449372.7:c.2065_2071delinsCTCTCCA (SYNGAP1)	ENSP00000416519.4:p.Leu689=
ENST00000629380.3:c.2065_2071delinsCTCTCCA (SYNGAP1)	ENSP00000486463.1:p.Leu689=
ENST00000636193.1:n.17_23delinsCTCTCCA (SYNGAP1)
ENST00000638142.2:c.*462_*468delinsCTCTCCA (SYNGAP1)	ENSP00000490803.1:n.*462_*468delinsCTCTCC...
ENST00000644458.1:c.2065_2071delinsCTCTCCA (SYNGAP1)	ENSP00000495541.1:p.Leu689=
ENST00000645250.1:c.1888_1894delinsCTCTCCA (SYNGAP1)	ENSP00000494861.1:p.Leu630=
ENST00000646630.1:c.2065_2071delinsCTCTCCA (SYNGAP1) MANE Select	ENSP00000496007.1:p.Leu689=
ENST00000293748.9:c.2020_2026delinsCTCTCCA (SYNGAP1)	ENSP00000293748.6:p.Leu674=
ENST00000418600.6:c.2065_2071delinsCTCTCCA (SYNGAP1)	ENSP00000403636.3:p.Leu689=
ENST00000428982.4:c.1888_1894delinsCTCTCCA (SYNGAP1)	ENSP00000412475.2:p.Leu630=
ENST00000449372.6:c.2065_2071delinsCTCTCCA (SYNGAP1)	ENSP00000416519.3:p.Leu689=
ENST00000628646.2:c.2065_2071delinsCTCTCCA (SYNGAP1)	ENSP00000486431.1:p.Leu689=
ENST00000629380.2:c.2065_2071delinsCTCTCCA (SYNGAP1)	ENSP00000486463.1:p.Leu689=
NM_006772.2:c.2065_2071delinsCTCTCCA (SYNGAP1)	NP_006763.2:p.Leu689=
NM_001130066.1:c.2065_2071delinsCTCTCCA (SYNGAP1)	NP_001123538.1:p.Leu689=
NM_001130066.2:c.2065_2071delinsCTCTCCA (SYNGAP1)	NP_001123538.1:p.Leu689=
NM_006772.3:c.2065_2071delinsCTCTCCA (SYNGAP1) MANE Select	NP_006763.2:p.Leu689=
NR_174954.1:n.330-3849_330-3843delinsTGGAGAG (SYNGAP1-AS1)