Canonical Allele Identifier: CA1620017222

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446931_33446938delinsCTCACTCA , CM000668.2:g.33446931_33446938delinsCTCACTCA	GRCh38
NC_000006.11:g.33414708_33414715delinsCTCACTCA , CM000668.1:g.33414708_33414715delinsCTCACTCA	GRCh37
NC_000006.10:g.33522686_33522693delinsCTCACTCA	NCBI36
NG_016137.1:g.31862_31869delinsCTCACTCA
NG_016137.2:g.31862_31869delinsCTCACTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3536+145_3536+152delinsCTCACTCA (SYNGAP1)	ENSP00000507403.1:n.3536+145_3536+152delinsCTCACTCA
ENST00000418600.7:c.3794+145_3794+152delinsCTCACTCA (SYNGAP1)	ENSP00000403636.3:n.3794+145_3794+152delinsCTCACTCA
ENST00000449372.7:c.3746+145_3746+152delinsCTCACTCA (SYNGAP1)	ENSP00000416519.4:n.3746+145_3746+152delinsCTCACTCA
ENST00000629380.3:c.3794+145_3794+152delinsCTCACTCA (SYNGAP1)	ENSP00000486463.1:n.3794+145_3794+152delinsCTCACTCA
ENST00000636436.1:n.76+145_76+152delinsCTCACTCA (SYNGAP1)
ENST00000644458.1:c.3794+145_3794+152delinsCTCACTCA (SYNGAP1)	ENSP00000495541.1:n.3794+145_3794+152delinsCTCACTCA
ENST00000645250.1:c.3617+145_3617+152delinsCTCACTCA (SYNGAP1)	ENSP00000494861.1:n.3617+145_3617+152delinsCTCACTCA
ENST00000646630.1:c.3794+145_3794+152delinsCTCACTCA (SYNGAP1) MANE Select	ENSP00000496007.1:n.3794+145_3794+152delinsCTCACTCA
ENST00000293748.9:c.3749+145_3749+152delinsCTCACTCA (SYNGAP1)	ENSP00000293748.6:n.3749+145_3749+152delinsCTCACTCA
ENST00000418600.6:c.3794+145_3794+152delinsCTCACTCA (SYNGAP1)	ENSP00000403636.3:n.3794+145_3794+152delinsCTCACTCA
ENST00000428982.4:c.3617+145_3617+152delinsCTCACTCA (SYNGAP1)	ENSP00000412475.2:n.3617+145_3617+152delinsCTCACTCA
ENST00000449372.6:c.3746+145_3746+152delinsCTCACTCA (SYNGAP1)	ENSP00000416519.3:n.3746+145_3746+152delinsCTCACTCA
ENST00000470232.1:n.76+145_76+152delinsCTCACTCA (SYNGAP1)
ENST00000628646.2:c.3794+145_3794+152delinsCTCACTCA (SYNGAP1)	ENSP00000486431.1:n.3794+145_3794+152delinsCTCACTCA
ENST00000629380.2:c.3794+145_3794+152delinsCTCACTCA (SYNGAP1)	ENSP00000486463.1:n.3794+145_3794+152delinsCTCACTCA
NM_006772.2:c.3794+145_3794+152delinsCTCACTCA (SYNGAP1)	NP_006763.2:n.3794+145_3794+152delinsCTCACTCA
NM_001130066.1:c.3746+145_3746+152delinsCTCACTCA (SYNGAP1)	NP_001123538.1:n.3746+145_3746+152delinsCTCACTCA
NM_001130066.2:c.3746+145_3746+152delinsCTCACTCA (SYNGAP1)	NP_001123538.1:n.3746+145_3746+152delinsCTCACTCA
NM_006772.3:c.3794+145_3794+152delinsCTCACTCA (SYNGAP1) MANE Select	NP_006763.2:n.3794+145_3794+152delinsCTCACTCA
NR_174954.1:n.137-140_137-133delinsTGAGTGAG (SYNGAP1-AS1)