Canonical Allele Identifier: CA1620016972

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446713_33446715delinsCTG , CM000668.2:g.33446713_33446715delinsCTG	GRCh38
NC_000006.11:g.33414490_33414492delinsCTG , CM000668.1:g.33414490_33414492delinsCTG	GRCh37
NC_000006.10:g.33522468_33522470delinsCTG	NCBI36
NG_016137.1:g.31644_31646delinsCTG
NG_016137.2:g.31644_31646delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3463_3465delinsCTG (SYNGAP1)	ENSP00000507403.1:p.Leu1155=
ENST00000418600.7:c.3721_3723delinsCTG (SYNGAP1)	ENSP00000403636.3:p.Leu1241=
ENST00000449372.7:c.3673_3675delinsCTG (SYNGAP1)	ENSP00000416519.4:p.Leu1225=
ENST00000629380.3:c.3721_3723delinsCTG (SYNGAP1)	ENSP00000486463.1:p.Leu1241=
ENST00000636436.1:n.3_5delinsCTG (SYNGAP1)
ENST00000644458.1:c.3721_3723delinsCTG (SYNGAP1)	ENSP00000495541.1:p.Leu1241=
ENST00000645250.1:c.3544_3546delinsCTG (SYNGAP1)	ENSP00000494861.1:p.Leu1182=
ENST00000646630.1:c.3721_3723delinsCTG (SYNGAP1) MANE Select	ENSP00000496007.1:p.Leu1241=
ENST00000293748.9:c.3676_3678delinsCTG (SYNGAP1)	ENSP00000293748.6:p.Leu1226=
ENST00000418600.6:c.3721_3723delinsCTG (SYNGAP1)	ENSP00000403636.3:p.Leu1241=
ENST00000428982.4:c.3544_3546delinsCTG (SYNGAP1)	ENSP00000412475.2:p.Leu1182=
ENST00000449372.6:c.3673_3675delinsCTG (SYNGAP1)	ENSP00000416519.3:p.Leu1225=
ENST00000470232.1:n.3_5delinsCTG (SYNGAP1)
ENST00000628646.2:c.3721_3723delinsCTG (SYNGAP1)	ENSP00000486431.1:p.Leu1241=
ENST00000629380.2:c.3721_3723delinsCTG (SYNGAP1)	ENSP00000486463.1:p.Leu1241=
NM_006772.2:c.3721_3723delinsCTG (SYNGAP1)	NP_006763.2:p.Leu1241=
NM_001130066.1:c.3673_3675delinsCTG (SYNGAP1)	NP_001123538.1:p.Leu1225=
NM_001130066.2:c.3673_3675delinsCTG (SYNGAP1)	NP_001123538.1:p.Leu1225=
NM_006772.3:c.3721_3723delinsCTG (SYNGAP1) MANE Select	NP_006763.2:p.Leu1241=
NR_174954.1:n.220_222delinsCAG (SYNGAP1-AS1)