Canonical Allele Identifier: CA2580074376

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 2100599
• ClinVar RCV Id: RCV003014481

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443143_33443144del , CM000668.2:g.33443143_33443144del	GRCh38
NC_000006.11:g.33410920_33410921del , CM000668.1:g.33410920_33410921del	GRCh37
NC_000006.10:g.33518898_33518899del	NCBI36
NG_016137.1:g.28074_28075del
NG_016137.2:g.28074_28075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2333_2334del (SYNGAP1)	ENSP00000507403.1:p.Ala778GlyfsTer?
ENST00000418600.7:c.2591_2592del (SYNGAP1)	ENSP00000403636.3:p.Ala864GlyfsTer?
ENST00000449372.7:c.2549_2550del (SYNGAP1)	ENSP00000416519.4:p.Ala850GlyfsTer?
ENST00000629380.3:c.2591_2592del (SYNGAP1)	ENSP00000486463.1:p.Ala864GlyfsTer?
ENST00000644458.1:c.2591_2592del (SYNGAP1)	ENSP00000495541.1:p.Ala864GlyfsTer?
ENST00000645250.1:c.2414_2415del (SYNGAP1)	ENSP00000494861.1:p.Ala805GlyfsTer?
ENST00000646630.1:c.2591_2592del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ala864GlyfsTer?
ENST00000293748.9:c.2546_2547del (SYNGAP1)	ENSP00000293748.6:p.Ala849GlyfsTer?
ENST00000418600.6:c.2591_2592del (SYNGAP1)	ENSP00000403636.3:p.Ala864GlyfsTer?
ENST00000428982.4:c.2414_2415del (SYNGAP1)	ENSP00000412475.2:p.Ala805GlyfsTer?
ENST00000449372.6:c.2549_2550del (SYNGAP1)	ENSP00000416519.3:p.Ala850GlyfsTer?
ENST00000628646.2:c.2591_2592del (SYNGAP1)	ENSP00000486431.1:p.Ala864GlyfsTer?
ENST00000629380.2:c.2591_2592del (SYNGAP1)	ENSP00000486463.1:p.Ala864GlyfsTer?
NM_006772.2:c.2591_2592del (SYNGAP1)	NP_006763.2:p.Ala864GlyfsTer?
NM_001130066.1:c.2549_2550del (SYNGAP1)	NP_001123538.1:p.Ala850GlyfsTer?
NM_001130066.2:c.2549_2550del (SYNGAP1)	NP_001123538.1:p.Ala850GlyfsTer?
NM_006772.3:c.2591_2592del (SYNGAP1) MANE Select	NP_006763.2:p.Ala864GlyfsTer?
NR_174954.1:n.329+3463_329+3464del (SYNGAP1-AS1)