Canonical Allele Identifier: CA2695206221

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443367_33443370del , CM000668.2:g.33443367_33443370del	GRCh38
NC_000006.11:g.33411144_33411147del , CM000668.1:g.33411144_33411147del	GRCh37
NC_000006.10:g.33519122_33519125del	NCBI36
NG_016137.1:g.28298_28301del
NG_016137.2:g.28298_28301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2557_2560del (SYNGAP1)	ENSP00000507403.1:p.Pro853ValfsTer?
ENST00000418600.7:c.2815_2818del (SYNGAP1)	ENSP00000403636.3:p.Pro939ValfsTer?
ENST00000449372.7:c.2773_2776del (SYNGAP1)	ENSP00000416519.4:p.Pro925ValfsTer?
ENST00000629380.3:c.2815_2818del (SYNGAP1)	ENSP00000486463.1:p.Pro939ValfsTer?
ENST00000644458.1:c.2815_2818del (SYNGAP1)	ENSP00000495541.1:p.Pro939ValfsTer?
ENST00000645250.1:c.2638_2641del (SYNGAP1)	ENSP00000494861.1:p.Pro880ValfsTer?
ENST00000646630.1:c.2815_2818del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Pro939ValfsTer?
ENST00000293748.9:c.2770_2773del (SYNGAP1)	ENSP00000293748.6:p.Pro924ValfsTer?
ENST00000418600.6:c.2815_2818del (SYNGAP1)	ENSP00000403636.3:p.Pro939ValfsTer?
ENST00000428982.4:c.2638_2641del (SYNGAP1)	ENSP00000412475.2:p.Pro880ValfsTer?
ENST00000449372.6:c.2773_2776del (SYNGAP1)	ENSP00000416519.3:p.Pro925ValfsTer?
ENST00000628646.2:c.2815_2818del (SYNGAP1)	ENSP00000486431.1:p.Pro939ValfsTer?
ENST00000629380.2:c.2815_2818del (SYNGAP1)	ENSP00000486463.1:p.Pro939ValfsTer?
NM_006772.2:c.2815_2818del (SYNGAP1)	NP_006763.2:p.Pro939ValfsTer?
NM_001130066.1:c.2773_2776del (SYNGAP1)	NP_001123538.1:p.Pro925ValfsTer?
NM_001130066.2:c.2773_2776del (SYNGAP1)	NP_001123538.1:p.Pro925ValfsTer?
NM_006772.3:c.2815_2818del (SYNGAP1) MANE Select	NP_006763.2:p.Pro939ValfsTer?
NR_174954.1:n.329+3237_329+3240del (SYNGAP1-AS1)