Canonical Allele Identifier: CA2580074387

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 1992770
• ClinVar RCV Id: RCV002796170

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443507_33443510del , CM000668.2:g.33443507_33443510del	GRCh38
NC_000006.11:g.33411284_33411287del , CM000668.1:g.33411284_33411287del	GRCh37
NC_000006.10:g.33519262_33519265del	NCBI36
NG_016137.1:g.28438_28441del
NG_016137.2:g.28438_28441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2697_2700del (SYNGAP1)	ENSP00000507403.1:p.Ser899ArgfsTer?
ENST00000418600.7:c.2955_2958del (SYNGAP1)	ENSP00000403636.3:p.Ser985ArgfsTer?
ENST00000449372.7:c.2913_2916del (SYNGAP1)	ENSP00000416519.4:p.Ser971ArgfsTer?
ENST00000629380.3:c.2955_2958del (SYNGAP1)	ENSP00000486463.1:p.Ser985ArgfsTer?
ENST00000644458.1:c.2955_2958del (SYNGAP1)	ENSP00000495541.1:p.Ser985ArgfsTer?
ENST00000645250.1:c.2778_2781del (SYNGAP1)	ENSP00000494861.1:p.Ser926ArgfsTer?
ENST00000646630.1:c.2955_2958del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ser985ArgfsTer?
ENST00000293748.9:c.2910_2913del (SYNGAP1)	ENSP00000293748.6:p.Ser970ArgfsTer?
ENST00000418600.6:c.2955_2958del (SYNGAP1)	ENSP00000403636.3:p.Ser985ArgfsTer?
ENST00000428982.4:c.2778_2781del (SYNGAP1)	ENSP00000412475.2:p.Ser926ArgfsTer?
ENST00000449372.6:c.2913_2916del (SYNGAP1)	ENSP00000416519.3:p.Ser971ArgfsTer?
ENST00000628646.2:c.2955_2958del (SYNGAP1)	ENSP00000486431.1:p.Ser985ArgfsTer?
ENST00000629380.2:c.2955_2958del (SYNGAP1)	ENSP00000486463.1:p.Ser985ArgfsTer?
NM_006772.2:c.2955_2958del (SYNGAP1)	NP_006763.2:p.Ser985ArgfsTer?
NM_001130066.1:c.2913_2916del (SYNGAP1)	NP_001123538.1:p.Ser971ArgfsTer?
NM_001130066.2:c.2913_2916del (SYNGAP1)	NP_001123538.1:p.Ser971ArgfsTer?
NM_006772.3:c.2955_2958del (SYNGAP1) MANE Select	NP_006763.2:p.Ser985ArgfsTer?
NR_174954.1:n.329+3099_329+3102del (SYNGAP1-AS1)