Canonical Allele Identifier: CA1087667830

Gene: SYNGAP1

Linked Data

• dbSNP Id: rs1777286791
• gnomAD v3: 6-33434957-A-AAAAG
• gnomAD v4: 6-33434957-A-AAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33434960_33434961insGAAA , CM000668.2:g.33434960_33434961insGAAA	GRCh38
NC_000006.11:g.33402737_33402738insGAAA , CM000668.1:g.33402737_33402738insGAAA	GRCh37
NC_000006.10:g.33510715_33510716insGAAA	NCBI36
NG_016137.1:g.19891_19892insGAAA
NG_016137.2:g.19891_19892insGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.252-192_252-191insGAAA	ENSP00000507403.1:n.252-192_252-191insGAAA
ENST00000418600.7:c.510-192_510-191insGAAA	ENSP00000403636.3:n.510-192_510-191insGAAA
ENST00000449372.7:c.510-192_510-191insGAAA	ENSP00000416519.4:n.510-192_510-191insGAAA
ENST00000629380.3:c.510-192_510-191insGAAA	ENSP00000486463.1:n.510-192_510-191insGAAA
ENST00000638142.2:c.510-192_510-191insGAAA	ENSP00000490803.1:n.510-192_510-191insGAAA
ENST00000644458.1:c.510-192_510-191insGAAA	ENSP00000495541.1:n.510-192_510-191insGAAA
ENST00000645250.1:c.333-192_333-191insGAAA	ENSP00000494861.1:n.333-192_333-191insGAAA
ENST00000646630.1:c.510-192_510-191insGAAA MANE Select	ENSP00000496007.1:n.510-192_510-191insGAAA
ENST00000293748.9:c.465-192_465-191insGAAA	ENSP00000293748.6:n.465-192_465-191insGAAA
ENST00000418600.6:c.510-192_510-191insGAAA	ENSP00000403636.3:n.510-192_510-191insGAAA
ENST00000428982.4:c.333-192_333-191insGAAA	ENSP00000412475.2:n.333-192_333-191insGAAA
ENST00000449372.6:c.510-192_510-191insGAAA	ENSP00000416519.3:n.510-192_510-191insGAAA
ENST00000479510.2:n.705-192_705-191insGAAA
ENST00000628646.2:c.510-192_510-191insGAAA	ENSP00000486431.1:n.510-192_510-191insGAAA
ENST00000629380.2:c.510-192_510-191insGAAA	ENSP00000486463.1:n.510-192_510-191insGAAA
NM_006772.2:c.510-192_510-191insGAAA	NP_006763.2:n.510-192_510-191insGAAA
NM_001130066.1:c.510-192_510-191insGAAA	NP_001123538.1:n.510-192_510-191insGAAA
NM_001130066.2:c.510-192_510-191insGAAA	NP_001123538.1:n.510-192_510-191insGAAA
NM_006772.3:c.510-192_510-191insGAAA MANE Select	NP_006763.2:n.510-192_510-191insGAAA