Canonical Allele Identifier: CA2842964032

Gene: SYNGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33435168dup , CM000668.2:g.33435168dup	GRCh38
NC_000006.11:g.33402945dup , CM000668.1:g.33402945dup	GRCh37
NC_000006.10:g.33510923dup	NCBI36
NG_016137.1:g.20099dup
NG_016137.2:g.20099dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.268dup	ENSP00000507403.1:p.Ser90LysfsTer3
ENST00000418600.7:c.526dup	ENSP00000403636.3:p.Ser176LysfsTer3
ENST00000449372.7:c.526dup	ENSP00000416519.4:p.Ser176LysfsTer3
ENST00000629380.3:c.526dup	ENSP00000486463.1:p.Ser176LysfsTer3
ENST00000638142.2:c.526dup	ENSP00000490803.1:p.Ser176LysfsTer3
ENST00000644458.1:c.526dup	ENSP00000495541.1:p.Ser176LysfsTer3
ENST00000645250.1:c.349dup	ENSP00000494861.1:p.Ser117LysfsTer3
ENST00000646630.1:c.526dup MANE Select	ENSP00000496007.1:p.Ser176LysfsTer3
ENST00000293748.9:c.481dup	ENSP00000293748.6:p.Ser161LysfsTer3
ENST00000418600.6:c.526dup	ENSP00000403636.3:p.Ser176LysfsTer3
ENST00000428982.4:c.349dup	ENSP00000412475.2:p.Ser117LysfsTer3
ENST00000449372.6:c.526dup	ENSP00000416519.3:p.Ser176LysfsTer3
ENST00000479510.2:n.721dup
ENST00000628646.2:c.526dup	ENSP00000486431.1:p.Ser176LysfsTer3
ENST00000629380.2:c.526dup	ENSP00000486463.1:p.Ser176LysfsTer3
NM_006772.2:c.526dup	NP_006763.2:p.Ser176LysfsTer3
NM_001130066.1:c.526dup	NP_001123538.1:p.Ser176LysfsTer3
NM_001130066.2:c.526dup	NP_001123538.1:p.Ser176LysfsTer3
NM_006772.3:c.526dup MANE Select	NP_006763.2:p.Ser176LysfsTer3