Canonical Allele Identifier: CA2499214071

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446525_33446527del , CM000668.2:g.33446525_33446527del	GRCh38
NC_000006.11:g.33414302_33414304del , CM000668.1:g.33414302_33414304del	GRCh37
NC_000006.10:g.33522280_33522282del	NCBI36
NG_016137.1:g.31456_31458del
NG_016137.2:g.31456_31458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3325-50_3325-48del (SYNGAP1)	ENSP00000507403.1:n.3325-50_3325-48del
ENST00000418600.7:c.3583-50_3583-48del (SYNGAP1)	ENSP00000403636.3:n.3583-50_3583-48del
ENST00000449372.7:c.3541-56_3541-54del (SYNGAP1)	ENSP00000416519.4:n.3541-56_3541-54del
ENST00000629380.3:c.3583-50_3583-48del (SYNGAP1)	ENSP00000486463.1:n.3583-50_3583-48del
ENST00000644458.1:c.3583-50_3583-48del (SYNGAP1)	ENSP00000495541.1:n.3583-50_3583-48del
ENST00000645250.1:c.3406-50_3406-48del (SYNGAP1)	ENSP00000494861.1:n.3406-50_3406-48del
ENST00000646630.1:c.3583-50_3583-48del (SYNGAP1) MANE Select	ENSP00000496007.1:n.3583-50_3583-48del
ENST00000293748.9:c.3538-50_3538-48del (SYNGAP1)	ENSP00000293748.6:n.3538-50_3538-48del
ENST00000418600.6:c.3583-50_3583-48del (SYNGAP1)	ENSP00000403636.3:n.3583-50_3583-48del
ENST00000428982.4:c.3406-50_3406-48del (SYNGAP1)	ENSP00000412475.2:n.3406-50_3406-48del
ENST00000449372.6:c.3541-56_3541-54del (SYNGAP1)	ENSP00000416519.3:n.3541-56_3541-54del
ENST00000628646.2:c.3583-50_3583-48del (SYNGAP1)	ENSP00000486431.1:n.3583-50_3583-48del
ENST00000629380.2:c.3583-50_3583-48del (SYNGAP1)	ENSP00000486463.1:n.3583-50_3583-48del
NM_006772.2:c.3583-50_3583-48del (SYNGAP1)	NP_006763.2:n.3583-50_3583-48del
NM_001130066.1:c.3541-56_3541-54del (SYNGAP1)	NP_001123538.1:n.3541-56_3541-54del
NM_001130066.2:c.3541-56_3541-54del (SYNGAP1)	NP_001123538.1:n.3541-56_3541-54del
NM_006772.3:c.3583-50_3583-48del (SYNGAP1) MANE Select	NP_006763.2:n.3583-50_3583-48del
NR_174954.1:n.329+79_329+81del (SYNGAP1-AS1)