Canonical Allele Identifier: CA2697553287

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 2759838
• ClinVar RCV Id: RCV003507202

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443761_33443762delinsCA , CM000668.2:g.33443761_33443762delinsCA	GRCh38
NC_000006.11:g.33411538_33411539delinsCA , CM000668.1:g.33411538_33411539delinsCA	GRCh37
NC_000006.10:g.33519516_33519517delinsCA	NCBI36
NG_016137.1:g.28692_28693delinsCA
NG_016137.2:g.28692_28693delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.2951_2952delinsCA (SYNGAP1)	ENSP00000507403.1:p.Arg984Thr
ENST00000418600.7:c.3209_3210delinsCA (SYNGAP1)	ENSP00000403636.3:p.Arg1070Thr
ENST00000449372.7:c.3167_3168delinsCA (SYNGAP1)	ENSP00000416519.4:p.Arg1056Thr
ENST00000629380.3:c.3209_3210delinsCA (SYNGAP1)	ENSP00000486463.1:p.Arg1070Thr
ENST00000644458.1:c.3209_3210delinsCA (SYNGAP1)	ENSP00000495541.1:p.Arg1070Thr
ENST00000645250.1:c.3032_3033delinsCA (SYNGAP1)	ENSP00000494861.1:p.Arg1011Thr
ENST00000646630.1:c.3209_3210delinsCA (SYNGAP1) MANE Select	ENSP00000496007.1:p.Arg1070Thr
ENST00000293748.9:c.3164_3165delinsCA (SYNGAP1)	ENSP00000293748.6:p.Arg1055Thr
ENST00000418600.6:c.3209_3210delinsCA (SYNGAP1)	ENSP00000403636.3:p.Arg1070Thr
ENST00000428982.4:c.3032_3033delinsCA (SYNGAP1)	ENSP00000412475.2:p.Arg1011Thr
ENST00000449372.6:c.3167_3168delinsCA (SYNGAP1)	ENSP00000416519.3:p.Arg1056Thr
ENST00000628646.2:c.3209_3210delinsCA (SYNGAP1)	ENSP00000486431.1:p.Arg1070Thr
ENST00000629380.2:c.3209_3210delinsCA (SYNGAP1)	ENSP00000486463.1:p.Arg1070Thr
NM_006772.2:c.3209_3210delinsCA (SYNGAP1)	NP_006763.2:p.Arg1070Thr
NM_001130066.1:c.3167_3168delinsCA (SYNGAP1)	NP_001123538.1:p.Arg1056Thr
NM_001130066.2:c.3167_3168delinsCA (SYNGAP1)	NP_001123538.1:p.Arg1056Thr
NM_006772.3:c.3209_3210delinsCA (SYNGAP1) MANE Select	NP_006763.2:p.Arg1070Thr
NR_174954.1:n.329+2844_329+2845delinsTG (SYNGAP1-AS1)