Canonical Allele Identifier: CA2739272943

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 2832819
• ClinVar RCV Id: RCV003616528

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443328_33443329del , CM000668.2:g.33443328_33443329del	GRCh38
NC_000006.11:g.33411105_33411106del , CM000668.1:g.33411105_33411106del	GRCh37
NC_000006.10:g.33519083_33519084del	NCBI36
NG_016137.1:g.28259_28260del
NG_016137.2:g.28259_28260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2518_2519del (SYNGAP1)	ENSP00000507403.1:p.Ser840LeufsTer11
ENST00000418600.7:c.2776_2777del (SYNGAP1)	ENSP00000403636.3:p.Ser926LeufsTer11
ENST00000449372.7:c.2734_2735del (SYNGAP1)	ENSP00000416519.4:p.Ser912LeufsTer11
ENST00000629380.3:c.2776_2777del (SYNGAP1)	ENSP00000486463.1:p.Ser926LeufsTer11
ENST00000644458.1:c.2776_2777del (SYNGAP1)	ENSP00000495541.1:p.Ser926LeufsTer11
ENST00000645250.1:c.2599_2600del (SYNGAP1)	ENSP00000494861.1:p.Ser867LeufsTer11
ENST00000646630.1:c.2776_2777del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ser926LeufsTer11
ENST00000293748.9:c.2731_2732del (SYNGAP1)	ENSP00000293748.6:p.Ser911LeufsTer11
ENST00000418600.6:c.2776_2777del (SYNGAP1)	ENSP00000403636.3:p.Ser926LeufsTer11
ENST00000428982.4:c.2599_2600del (SYNGAP1)	ENSP00000412475.2:p.Ser867LeufsTer11
ENST00000449372.6:c.2734_2735del (SYNGAP1)	ENSP00000416519.3:p.Ser912LeufsTer11
ENST00000628646.2:c.2776_2777del (SYNGAP1)	ENSP00000486431.1:p.Ser926LeufsTer11
ENST00000629380.2:c.2776_2777del (SYNGAP1)	ENSP00000486463.1:p.Ser926LeufsTer11
NM_006772.2:c.2776_2777del (SYNGAP1)	NP_006763.2:p.Ser926LeufsTer11
NM_001130066.1:c.2734_2735del (SYNGAP1)	NP_001123538.1:p.Ser912LeufsTer11
NM_001130066.2:c.2734_2735del (SYNGAP1)	NP_001123538.1:p.Ser912LeufsTer11
NM_006772.3:c.2776_2777del (SYNGAP1) MANE Select	NP_006763.2:p.Ser926LeufsTer11
NR_174954.1:n.329+3280_329+3281del (SYNGAP1-AS1)