Canonical Allele Identifier: CA2695202899

Gene: SYNGAP1

Linked Data

• ClinVar Variation Id: 3064224
• ClinVar RCV Id: RCV003988811

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33435173_33435174del , CM000668.2:g.33435173_33435174del	GRCh38
NC_000006.11:g.33402950_33402951del , CM000668.1:g.33402950_33402951del	GRCh37
NC_000006.10:g.33510928_33510929del	NCBI36
NG_016137.1:g.20104_20105del
NG_016137.2:g.20104_20105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.273_274del	ENSP00000507403.1:p.Phe91LeufsTer7
ENST00000418600.7:c.531_532del	ENSP00000403636.3:p.Phe177LeufsTer7
ENST00000449372.7:c.531_532del	ENSP00000416519.4:p.Phe177LeufsTer7
ENST00000629380.3:c.531_532del	ENSP00000486463.1:p.Phe177LeufsTer7
ENST00000638142.2:c.531_532del	ENSP00000490803.1:p.Phe177LeufsTer7
ENST00000644458.1:c.531_532del	ENSP00000495541.1:p.Phe177LeufsTer7
ENST00000645250.1:c.354_355del	ENSP00000494861.1:p.Phe118LeufsTer7
ENST00000646630.1:c.531_532del MANE Select	ENSP00000496007.1:p.Phe177LeufsTer7
ENST00000293748.9:c.486_487del	ENSP00000293748.6:p.Phe162LeufsTer7
ENST00000418600.6:c.531_532del	ENSP00000403636.3:p.Phe177LeufsTer7
ENST00000428982.4:c.354_355del	ENSP00000412475.2:p.Phe118LeufsTer7
ENST00000449372.6:c.531_532del	ENSP00000416519.3:p.Phe177LeufsTer7
ENST00000479510.2:n.726_727del
ENST00000628646.2:c.531_532del	ENSP00000486431.1:p.Phe177LeufsTer7
ENST00000629380.2:c.531_532del	ENSP00000486463.1:p.Phe177LeufsTer7
NM_006772.2:c.531_532del	NP_006763.2:p.Phe177LeufsTer7
NM_001130066.1:c.531_532del	NP_001123538.1:p.Phe177LeufsTer7
NM_001130066.2:c.531_532del	NP_001123538.1:p.Phe177LeufsTer7
NM_006772.3:c.531_532del MANE Select	NP_006763.2:p.Phe177LeufsTer7