Canonical Allele Identifier: CA2678276282

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• gnomAD v4: 6-33443429-C-CCACCACCACCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443440_33443451dup , CM000668.2:g.33443440_33443451dup	GRCh38
NC_000006.11:g.33411217_33411228dup , CM000668.1:g.33411217_33411228dup	GRCh37
NC_000006.10:g.33519195_33519206dup	NCBI36
NG_016137.1:g.28371_28382dup
NG_016137.2:g.28371_28382dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2630_2641dup (SYNGAP1)	ENSP00000507403.1:p.His880_Arg881insHisHisHisHis
ENST00000418600.7:c.2888_2899dup (SYNGAP1)	ENSP00000403636.3:p.His966_Arg967insHisHisHisHis
ENST00000449372.7:c.2846_2857dup (SYNGAP1)	ENSP00000416519.4:p.His952_Arg953insHisHisHisHis
ENST00000629380.3:c.2888_2899dup (SYNGAP1)	ENSP00000486463.1:p.His966_Arg967insHisHisHisHis
ENST00000644458.1:c.2888_2899dup (SYNGAP1)	ENSP00000495541.1:p.His966_Arg967insHisHisHisHis
ENST00000645250.1:c.2711_2722dup (SYNGAP1)	ENSP00000494861.1:p.His907_Arg908insHisHisHisHis
ENST00000646630.1:c.2888_2899dup (SYNGAP1) MANE Select	ENSP00000496007.1:p.His966_Arg967insHisHisHisHis
ENST00000293748.9:c.2843_2854dup (SYNGAP1)	ENSP00000293748.6:p.His951_Arg952insHisHisHisHis
ENST00000418600.6:c.2888_2899dup (SYNGAP1)	ENSP00000403636.3:p.His966_Arg967insHisHisHisHis
ENST00000428982.4:c.2711_2722dup (SYNGAP1)	ENSP00000412475.2:p.His907_Arg908insHisHisHisHis
ENST00000449372.6:c.2846_2857dup (SYNGAP1)	ENSP00000416519.3:p.His952_Arg953insHisHisHisHis
ENST00000628646.2:c.2888_2899dup (SYNGAP1)	ENSP00000486431.1:p.His966_Arg967insHisHisHisHis
ENST00000629380.2:c.2888_2899dup (SYNGAP1)	ENSP00000486463.1:p.His966_Arg967insHisHisHisHis
NM_006772.2:c.2888_2899dup (SYNGAP1)	NP_006763.2:p.His966_Arg967insHisHisHisHis
NM_001130066.1:c.2846_2857dup (SYNGAP1)	NP_001123538.1:p.His952_Arg953insHisHisHisHis
NM_001130066.2:c.2846_2857dup (SYNGAP1)	NP_001123538.1:p.His952_Arg953insHisHisHisHis
NM_006772.3:c.2888_2899dup (SYNGAP1) MANE Select	NP_006763.2:p.His966_Arg967insHisHisHisHis
NR_174954.1:n.329+3165_329+3176dup (SYNGAP1-AS1)