Canonical Allele Identifier: CA2695202917

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443027_33443030dup , CM000668.2:g.33443027_33443030dup	GRCh38
NC_000006.11:g.33410804_33410807dup , CM000668.1:g.33410804_33410807dup	GRCh37
NC_000006.10:g.33518782_33518785dup	NCBI36
NG_016137.1:g.27958_27961dup
NG_016137.2:g.27958_27961dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2217_2220dup (SYNGAP1)	ENSP00000507403.1:p.Ile741GlyfsTer24
ENST00000418600.7:c.2475_2478dup (SYNGAP1)	ENSP00000403636.3:p.Ile827GlyfsTer24
ENST00000449372.7:c.2433_2436dup (SYNGAP1)	ENSP00000416519.4:p.Ile813GlyfsTer24
ENST00000629380.3:c.2475_2478dup (SYNGAP1)	ENSP00000486463.1:p.Ile827GlyfsTer24
ENST00000644458.1:c.2475_2478dup (SYNGAP1)	ENSP00000495541.1:p.Ile827GlyfsTer24
ENST00000645250.1:c.2298_2301dup (SYNGAP1)	ENSP00000494861.1:p.Ile768GlyfsTer24
ENST00000646630.1:c.2475_2478dup (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ile827GlyfsTer24
ENST00000293748.9:c.2430_2433dup (SYNGAP1)	ENSP00000293748.6:p.Ile812GlyfsTer24
ENST00000418600.6:c.2475_2478dup (SYNGAP1)	ENSP00000403636.3:p.Ile827GlyfsTer24
ENST00000428982.4:c.2298_2301dup (SYNGAP1)	ENSP00000412475.2:p.Ile768GlyfsTer24
ENST00000449372.6:c.2433_2436dup (SYNGAP1)	ENSP00000416519.3:p.Ile813GlyfsTer24
ENST00000628646.2:c.2475_2478dup (SYNGAP1)	ENSP00000486431.1:p.Ile827GlyfsTer24
ENST00000629380.2:c.2475_2478dup (SYNGAP1)	ENSP00000486463.1:p.Ile827GlyfsTer24
NM_006772.2:c.2475_2478dup (SYNGAP1)	NP_006763.2:p.Ile827GlyfsTer24
NM_001130066.1:c.2433_2436dup (SYNGAP1)	NP_001123538.1:p.Ile813GlyfsTer24
NM_001130066.2:c.2433_2436dup (SYNGAP1)	NP_001123538.1:p.Ile813GlyfsTer24
NM_006772.3:c.2475_2478dup (SYNGAP1) MANE Select	NP_006763.2:p.Ile827GlyfsTer24
NR_174954.1:n.329+3577_329+3580dup (SYNGAP1-AS1)