Canonical Allele Identifier: CA1620010036

Gene: SYNGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432468_33432486delinsCTGTGTGTGTGTGTATATG , CM000668.2:g.33432468_33432486delinsCTGTGTGTGTGTGTATATG	GRCh38
NC_000006.11:g.33400245_33400263delinsCTGTGTGTGTGTGTATATG , CM000668.1:g.33400245_33400263delinsCTGTGTGTGTGTGTATATG	GRCh37
NC_000006.10:g.33508223_33508241delinsCTGTGTGTGTGTGTATATG	NCBI36
NG_016137.1:g.17399_17417delinsCTGTGTGTGTGTGTATATG
NG_016137.2:g.17399_17417delinsCTGTGTGTGTGTGTATATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.130-217_130-199delinsCTGTGTGTGTGTGTATATG	ENSP00000507403.1:n.130-217_130-199delinsCTGTGTGTGTGTGTATATG
ENST00000418600.7:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG	ENSP00000403636.3:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
ENST00000449372.7:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG	ENSP00000416519.4:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
ENST00000629380.3:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG	ENSP00000486463.1:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
ENST00000638142.2:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG	ENSP00000490803.1:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
ENST00000644458.1:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG	ENSP00000495541.1:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
ENST00000645250.1:c.211-217_211-199delinsCTGTGTGTGTGTGTATATG	ENSP00000494861.1:n.211-217_211-199delinsCTGTGTGTGTGTGTATATG
ENST00000646630.1:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG MANE Select	ENSP00000496007.1:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
ENST00000293748.9:c.343-217_343-199delinsCTGTGTGTGTGTGTATATG	ENSP00000293748.6:n.343-217_343-199delinsCTGTGTGTGTGTGTATATG
ENST00000418600.6:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG	ENSP00000403636.3:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
ENST00000428982.4:c.211-217_211-199delinsCTGTGTGTGTGTGTATATG	ENSP00000412475.2:n.211-217_211-199delinsCTGTGTGTGTGTGTATATG
ENST00000449372.6:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG	ENSP00000416519.3:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
ENST00000479510.2:n.583-217_583-199delinsCTGTGTGTGTGTGTATATG
ENST00000628646.2:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG	ENSP00000486431.1:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
ENST00000629380.2:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG	ENSP00000486463.1:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
NM_006772.2:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG	NP_006763.2:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
NM_001130066.1:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG	NP_001123538.1:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
NM_001130066.2:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG	NP_001123538.1:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG
NM_006772.3:c.388-217_388-199delinsCTGTGTGTGTGTGTATATG MANE Select	NP_006763.2:n.388-217_388-199delinsCTGTGTGTGTGTGTATATG