Canonical Allele Identifier: CA1620016876

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446632_33446633delinsCG , CM000668.2:g.33446632_33446633delinsCG	GRCh38
NC_000006.11:g.33414409_33414410delinsCG , CM000668.1:g.33414409_33414410delinsCG	GRCh37
NC_000006.10:g.33522387_33522388delinsCG	NCBI36
NG_016137.1:g.31563_31564delinsCG
NG_016137.2:g.31563_31564delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3382_3383delinsCG (SYNGAP1)	ENSP00000507403.1:p.Arg1128=
ENST00000418600.7:c.3640_3641delinsCG (SYNGAP1)	ENSP00000403636.3:p.Arg1214=
ENST00000449372.7:c.3592_3593delinsCG (SYNGAP1)	ENSP00000416519.4:p.Arg1198=
ENST00000629380.3:c.3640_3641delinsCG (SYNGAP1)	ENSP00000486463.1:p.Arg1214=
ENST00000644458.1:c.3640_3641delinsCG (SYNGAP1)	ENSP00000495541.1:p.Arg1214=
ENST00000645250.1:c.3463_3464delinsCG (SYNGAP1)	ENSP00000494861.1:p.Arg1155=
ENST00000646630.1:c.3640_3641delinsCG (SYNGAP1) MANE Select	ENSP00000496007.1:p.Arg1214=
ENST00000293748.9:c.3595_3596delinsCG (SYNGAP1)	ENSP00000293748.6:p.Arg1199=
ENST00000418600.6:c.3640_3641delinsCG (SYNGAP1)	ENSP00000403636.3:p.Arg1214=
ENST00000428982.4:c.3463_3464delinsCG (SYNGAP1)	ENSP00000412475.2:p.Arg1155=
ENST00000449372.6:c.3592_3593delinsCG (SYNGAP1)	ENSP00000416519.3:p.Arg1198=
ENST00000628646.2:c.3640_3641delinsCG (SYNGAP1)	ENSP00000486431.1:p.Arg1214=
ENST00000629380.2:c.3640_3641delinsCG (SYNGAP1)	ENSP00000486463.1:p.Arg1214=
NM_006772.2:c.3640_3641delinsCG (SYNGAP1)	NP_006763.2:p.Arg1214=
NM_001130066.1:c.3592_3593delinsCG (SYNGAP1)	NP_001123538.1:p.Arg1198=
NM_001130066.2:c.3592_3593delinsCG (SYNGAP1)	NP_001123538.1:p.Arg1198=
NM_006772.3:c.3640_3641delinsCG (SYNGAP1) MANE Select	NP_006763.2:p.Arg1214=
NR_174954.1:n.302_303delinsCG (SYNGAP1-AS1)