Canonical Allele Identifier: CA1620011117

Gene: SYNGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33434782_33434785delinsCTGA , CM000668.2:g.33434782_33434785delinsCTGA	GRCh38
NC_000006.11:g.33402559_33402562delinsCTGA , CM000668.1:g.33402559_33402562delinsCTGA	GRCh37
NC_000006.10:g.33510537_33510540delinsCTGA	NCBI36
NG_016137.1:g.19713_19716delinsCTGA
NG_016137.2:g.19713_19716delinsCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.252-370_252-367delinsCTGA	ENSP00000507403.1:n.252-370_252-367delinsCTGA
ENST00000418600.7:c.510-370_510-367delinsCTGA	ENSP00000403636.3:n.510-370_510-367delinsCTGA
ENST00000449372.7:c.510-370_510-367delinsCTGA	ENSP00000416519.4:n.510-370_510-367delinsCTGA
ENST00000629380.3:c.510-370_510-367delinsCTGA	ENSP00000486463.1:n.510-370_510-367delinsCTGA
ENST00000638142.2:c.510-370_510-367delinsCTGA	ENSP00000490803.1:n.510-370_510-367delinsCTGA
ENST00000644458.1:c.510-370_510-367delinsCTGA	ENSP00000495541.1:n.510-370_510-367delinsCTGA
ENST00000645250.1:c.333-370_333-367delinsCTGA	ENSP00000494861.1:n.333-370_333-367delinsCTGA
ENST00000646630.1:c.510-370_510-367delinsCTGA MANE Select	ENSP00000496007.1:n.510-370_510-367delinsCTGA
ENST00000293748.9:c.465-370_465-367delinsCTGA	ENSP00000293748.6:n.465-370_465-367delinsCTGA
ENST00000418600.6:c.510-370_510-367delinsCTGA	ENSP00000403636.3:n.510-370_510-367delinsCTGA
ENST00000428982.4:c.333-370_333-367delinsCTGA	ENSP00000412475.2:n.333-370_333-367delinsCTGA
ENST00000449372.6:c.510-370_510-367delinsCTGA	ENSP00000416519.3:n.510-370_510-367delinsCTGA
ENST00000479510.2:n.705-370_705-367delinsCTGA
ENST00000628646.2:c.510-370_510-367delinsCTGA	ENSP00000486431.1:n.510-370_510-367delinsCTGA
ENST00000629380.2:c.510-370_510-367delinsCTGA	ENSP00000486463.1:n.510-370_510-367delinsCTGA
NM_006772.2:c.510-370_510-367delinsCTGA	NP_006763.2:n.510-370_510-367delinsCTGA
NM_001130066.1:c.510-370_510-367delinsCTGA	NP_001123538.1:n.510-370_510-367delinsCTGA
NM_001130066.2:c.510-370_510-367delinsCTGA	NP_001123538.1:n.510-370_510-367delinsCTGA
NM_006772.3:c.510-370_510-367delinsCTGA MANE Select	NP_006763.2:n.510-370_510-367delinsCTGA