Canonical Allele Identifier: CA2695202911

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 3010802
• ClinVar RCV Id: RCV003862441

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33437786_33437791delinsTCACCG , CM000668.2:g.33437786_33437791delinsTCACCG	GRCh38
NC_000006.11:g.33405563_33405568delinsTCACCG , CM000668.1:g.33405563_33405568delinsTCACCG	GRCh37
NC_000006.10:g.33513541_33513546delinsTCACCG	NCBI36
NG_016137.1:g.22717_22722delinsTCACCG
NG_016137.2:g.22717_22722delinsTCACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.623_628delinsTCACCG (SYNGAP1)	ENSP00000507403.1:p.Thr208_Ser210delinsIleThrAla
ENST00000418600.7:c.881_886delinsTCACCG (SYNGAP1)	ENSP00000403636.3:p.Thr294_Ser296delinsIleThrAla
ENST00000449372.7:c.881_886delinsTCACCG (SYNGAP1)	ENSP00000416519.4:p.Thr294_Ser296delinsIleThrAla
ENST00000629380.3:c.881_886delinsTCACCG (SYNGAP1)	ENSP00000486463.1:p.Thr294_Ser296delinsIleThrAla
ENST00000638142.2:c.881_886delinsTCACCG (SYNGAP1)	ENSP00000490803.1:p.Thr294_Ser296delinsIleThrAla
ENST00000644458.1:c.881_886delinsTCACCG (SYNGAP1)	ENSP00000495541.1:p.Thr294_Ser296delinsIleThrAla
ENST00000645250.1:c.704_709delinsTCACCG (SYNGAP1)	ENSP00000494861.1:p.Thr235_Ser237delinsIleThrAla
ENST00000646630.1:c.881_886delinsTCACCG (SYNGAP1) MANE Select	ENSP00000496007.1:p.Thr294_Ser296delinsIleThrAla
ENST00000293748.9:c.836_841delinsTCACCG (SYNGAP1)	ENSP00000293748.6:p.Thr279_Ser281delinsIleThrAla
ENST00000418600.6:c.881_886delinsTCACCG (SYNGAP1)	ENSP00000403636.3:p.Thr294_Ser296delinsIleThrAla
ENST00000428982.4:c.704_709delinsTCACCG (SYNGAP1)	ENSP00000412475.2:p.Thr235_Ser237delinsIleThrAla
ENST00000449372.6:c.881_886delinsTCACCG (SYNGAP1)	ENSP00000416519.3:p.Thr294_Ser296delinsIleThrAla
ENST00000479510.2:n.1076_1081delinsTCACCG (SYNGAP1)
ENST00000628646.2:c.881_886delinsTCACCG (SYNGAP1)	ENSP00000486431.1:p.Thr294_Ser296delinsIleThrAla
ENST00000629380.2:c.881_886delinsTCACCG (SYNGAP1)	ENSP00000486463.1:p.Thr294_Ser296delinsIleThrAla
NM_006772.2:c.881_886delinsTCACCG (SYNGAP1)	NP_006763.2:p.Thr294_Ser296delinsIleThrAla
NM_001130066.1:c.881_886delinsTCACCG (SYNGAP1)	NP_001123538.1:p.Thr294_Ser296delinsIleThrAla
NM_001130066.2:c.881_886delinsTCACCG (SYNGAP1)	NP_001123538.1:p.Thr294_Ser296delinsIleThrAla
NM_006772.3:c.881_886delinsTCACCG (SYNGAP1) MANE Select	NP_006763.2:p.Thr294_Ser296delinsIleThrAla
NR_174954.1:n.330-310_330-305delinsCGGTGA (SYNGAP1-AS1)