Canonical Allele Identifier: CA1620017211

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446913_33446925delinsTCCCCAGGAAGCC , CM000668.2:g.33446913_33446925delinsTCCCCAGGAAGCC	GRCh38
NC_000006.11:g.33414690_33414702delinsTCCCCAGGAAGCC , CM000668.1:g.33414690_33414702delinsTCCCCAGGAAGCC	GRCh37
NC_000006.10:g.33522668_33522680delinsTCCCCAGGAAGCC	NCBI36
NG_016137.1:g.31844_31856delinsTCCCCAGGAAGCC
NG_016137.2:g.31844_31856delinsTCCCCAGGAAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3536+127_3536+139delinsTCCCCAGGAAGCC (SYNGAP1)	ENSP00000507403.1:n.3536+127_3536+139delinsTCCCCAGGAAGCC
ENST00000418600.7:c.3794+127_3794+139delinsTCCCCAGGAAGCC (SYNGAP1)	ENSP00000403636.3:n.3794+127_3794+139delinsTCCCCAGGAAGCC
ENST00000449372.7:c.3746+127_3746+139delinsTCCCCAGGAAGCC (SYNGAP1)	ENSP00000416519.4:n.3746+127_3746+139delinsTCCCCAGGAAGCC
ENST00000629380.3:c.3794+127_3794+139delinsTCCCCAGGAAGCC (SYNGAP1)	ENSP00000486463.1:n.3794+127_3794+139delinsTCCCCAGGAAGCC
ENST00000636436.1:n.76+127_76+139delinsTCCCCAGGAAGCC (SYNGAP1)
ENST00000644458.1:c.3794+127_3794+139delinsTCCCCAGGAAGCC (SYNGAP1)	ENSP00000495541.1:n.3794+127_3794+139delinsTCCCCAGGAAGCC
ENST00000645250.1:c.3617+127_3617+139delinsTCCCCAGGAAGCC (SYNGAP1)	ENSP00000494861.1:n.3617+127_3617+139delinsTCCCCAGGAAGCC
ENST00000646630.1:c.3794+127_3794+139delinsTCCCCAGGAAGCC (SYNGAP1) MANE Select	ENSP00000496007.1:n.3794+127_3794+139delinsTCCCCAGGAAGCC
ENST00000293748.9:c.3749+127_3749+139delinsTCCCCAGGAAGCC (SYNGAP1)	ENSP00000293748.6:n.3749+127_3749+139delinsTCCCCAGGAAGCC
ENST00000418600.6:c.3794+127_3794+139delinsTCCCCAGGAAGCC (SYNGAP1)	ENSP00000403636.3:n.3794+127_3794+139delinsTCCCCAGGAAGCC
ENST00000428982.4:c.3617+127_3617+139delinsTCCCCAGGAAGCC (SYNGAP1)	ENSP00000412475.2:n.3617+127_3617+139delinsTCCCCAGGAAGCC
ENST00000449372.6:c.3746+127_3746+139delinsTCCCCAGGAAGCC (SYNGAP1)	ENSP00000416519.3:n.3746+127_3746+139delinsTCCCCAGGAAGCC
ENST00000470232.1:n.76+127_76+139delinsTCCCCAGGAAGCC (SYNGAP1)
ENST00000628646.2:c.3794+127_3794+139delinsTCCCCAGGAAGCC (SYNGAP1)	ENSP00000486431.1:n.3794+127_3794+139delinsTCCCCAGGAAGCC
ENST00000629380.2:c.3794+127_3794+139delinsTCCCCAGGAAGCC (SYNGAP1)	ENSP00000486463.1:n.3794+127_3794+139delinsTCCCCAGGAAGCC
NM_006772.2:c.3794+127_3794+139delinsTCCCCAGGAAGCC (SYNGAP1)	NP_006763.2:n.3794+127_3794+139delinsTCCCCAGGAAGCC
NM_001130066.1:c.3746+127_3746+139delinsTCCCCAGGAAGCC (SYNGAP1)	NP_001123538.1:n.3746+127_3746+139delinsTCCCCAGGAAGCC
NM_001130066.2:c.3746+127_3746+139delinsTCCCCAGGAAGCC (SYNGAP1)	NP_001123538.1:n.3746+127_3746+139delinsTCCCCAGGAAGCC
NM_006772.3:c.3794+127_3794+139delinsTCCCCAGGAAGCC (SYNGAP1) MANE Select	NP_006763.2:n.3794+127_3794+139delinsTCCCCAGGAAGCC
NR_174954.1:n.137-127_137-115delinsGGCTTCCTGGGGA (SYNGAP1-AS1)