Canonical Allele Identifier: CA2837995124

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33437774_33437780del , CM000668.2:g.33437774_33437780del	GRCh38
NC_000006.11:g.33405551_33405557del , CM000668.1:g.33405551_33405557del	GRCh37
NC_000006.10:g.33513529_33513535del	NCBI36
NG_016137.1:g.22705_22711del
NG_016137.2:g.22705_22711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.611_617del (SYNGAP1)	ENSP00000507403.1:p.Leu204HisfsTer?
ENST00000418600.7:c.869_875del (SYNGAP1)	ENSP00000403636.3:p.Leu290HisfsTer?
ENST00000449372.7:c.869_875del (SYNGAP1)	ENSP00000416519.4:p.Leu290HisfsTer?
ENST00000629380.3:c.869_875del (SYNGAP1)	ENSP00000486463.1:p.Leu290HisfsTer?
ENST00000638142.2:c.869_875del (SYNGAP1)	ENSP00000490803.1:p.Leu290HisfsTer?
ENST00000644458.1:c.869_875del (SYNGAP1)	ENSP00000495541.1:p.Leu290HisfsTer?
ENST00000645250.1:c.692_698del (SYNGAP1)	ENSP00000494861.1:p.Leu231HisfsTer?
ENST00000646630.1:c.869_875del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Leu290HisfsTer?
ENST00000293748.9:c.824_830del (SYNGAP1)	ENSP00000293748.6:p.Leu275HisfsTer?
ENST00000418600.6:c.869_875del (SYNGAP1)	ENSP00000403636.3:p.Leu290HisfsTer?
ENST00000428982.4:c.692_698del (SYNGAP1)	ENSP00000412475.2:p.Leu231HisfsTer?
ENST00000449372.6:c.869_875del (SYNGAP1)	ENSP00000416519.3:p.Leu290HisfsTer?
ENST00000479510.2:n.1064_1070del (SYNGAP1)
ENST00000628646.2:c.869_875del (SYNGAP1)	ENSP00000486431.1:p.Leu290HisfsTer?
ENST00000629380.2:c.869_875del (SYNGAP1)	ENSP00000486463.1:p.Leu290HisfsTer?
NM_006772.2:c.869_875del (SYNGAP1)	NP_006763.2:p.Leu290HisfsTer?
NM_001130066.1:c.869_875del (SYNGAP1)	NP_001123538.1:p.Leu290HisfsTer?
NM_001130066.2:c.869_875del (SYNGAP1)	NP_001123538.1:p.Leu290HisfsTer?
NM_006772.3:c.869_875del (SYNGAP1) MANE Select	NP_006763.2:p.Leu290HisfsTer?
NR_174954.1:n.330-295_330-289del (SYNGAP1-AS1)