Canonical Allele Identifier: CA2580074396

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 2442382
• ClinVar RCV Id: RCV003149155

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443765del , CM000668.2:g.33443765del	GRCh38
NC_000006.11:g.33411542del , CM000668.1:g.33411542del	GRCh37
NC_000006.10:g.33519520del	NCBI36
NG_016137.1:g.28696del
NG_016137.2:g.28696del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.2955del (SYNGAP1)	ENSP00000507403.1:p.Lys986SerfsTer5
ENST00000418600.7:c.3213del (SYNGAP1)	ENSP00000403636.3:p.Lys1072SerfsTer5
ENST00000449372.7:c.3171del (SYNGAP1)	ENSP00000416519.4:p.Lys1058SerfsTer5
ENST00000629380.3:c.3213del (SYNGAP1)	ENSP00000486463.1:p.Lys1072SerfsTer5
ENST00000644458.1:c.3213del (SYNGAP1)	ENSP00000495541.1:p.Lys1072SerfsTer5
ENST00000645250.1:c.3036del (SYNGAP1)	ENSP00000494861.1:p.Lys1013SerfsTer5
ENST00000646630.1:c.3213del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Lys1072SerfsTer5
ENST00000293748.9:c.3168del (SYNGAP1)	ENSP00000293748.6:p.Lys1057SerfsTer5
ENST00000418600.6:c.3213del (SYNGAP1)	ENSP00000403636.3:p.Lys1072SerfsTer5
ENST00000428982.4:c.3036del (SYNGAP1)	ENSP00000412475.2:p.Lys1013SerfsTer5
ENST00000449372.6:c.3171del (SYNGAP1)	ENSP00000416519.3:p.Lys1058SerfsTer5
ENST00000628646.2:c.3213del (SYNGAP1)	ENSP00000486431.1:p.Lys1072SerfsTer5
ENST00000629380.2:c.3213del (SYNGAP1)	ENSP00000486463.1:p.Lys1072SerfsTer5
NM_006772.2:c.3213del (SYNGAP1)	NP_006763.2:p.Lys1072SerfsTer5
NM_001130066.1:c.3171del (SYNGAP1)	NP_001123538.1:p.Lys1058SerfsTer5
NM_001130066.2:c.3171del (SYNGAP1)	NP_001123538.1:p.Lys1058SerfsTer5
NM_006772.3:c.3213del (SYNGAP1) MANE Select	NP_006763.2:p.Lys1072SerfsTer5
NR_174954.1:n.329+2841del (SYNGAP1-AS1)