Canonical Allele Identifier: CA824051083

Gene: SYNGAP1

Linked Data

• dbSNP Id: rs1420402774
• gnomAD v4: 6-33435006-A-AGG
• MyVariant Identifiers: chr6:g.33402783_33402784insGG (hg19) ; chr6:g.33435006_33435007insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33435007_33435008dup , CM000668.2:g.33435007_33435008dup	GRCh38
NC_000006.11:g.33402784_33402785dup , CM000668.1:g.33402784_33402785dup	GRCh37
NC_000006.10:g.33510762_33510763dup	NCBI36
NG_016137.1:g.19938_19939dup
NG_016137.2:g.19938_19939dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.252-145_252-144dup	ENSP00000507403.1:n.252-145_252-144dup
ENST00000418600.7:c.510-145_510-144dup	ENSP00000403636.3:n.510-145_510-144dup
ENST00000449372.7:c.510-145_510-144dup	ENSP00000416519.4:n.510-145_510-144dup
ENST00000629380.3:c.510-145_510-144dup	ENSP00000486463.1:n.510-145_510-144dup
ENST00000638142.2:c.510-145_510-144dup	ENSP00000490803.1:n.510-145_510-144dup
ENST00000644458.1:c.510-145_510-144dup	ENSP00000495541.1:n.510-145_510-144dup
ENST00000645250.1:c.333-145_333-144dup	ENSP00000494861.1:n.333-145_333-144dup
ENST00000646630.1:c.510-145_510-144dup MANE Select	ENSP00000496007.1:n.510-145_510-144dup
ENST00000293748.9:c.465-145_465-144dup	ENSP00000293748.6:n.465-145_465-144dup
ENST00000418600.6:c.510-145_510-144dup	ENSP00000403636.3:n.510-145_510-144dup
ENST00000428982.4:c.333-145_333-144dup	ENSP00000412475.2:n.333-145_333-144dup
ENST00000449372.6:c.510-145_510-144dup	ENSP00000416519.3:n.510-145_510-144dup
ENST00000479510.2:n.705-145_705-144dup
ENST00000628646.2:c.510-145_510-144dup	ENSP00000486431.1:n.510-145_510-144dup
ENST00000629380.2:c.510-145_510-144dup	ENSP00000486463.1:n.510-145_510-144dup
NM_006772.2:c.510-145_510-144dup	NP_006763.2:n.510-145_510-144dup
NM_001130066.1:c.510-145_510-144dup	NP_001123538.1:n.510-145_510-144dup
NM_001130066.2:c.510-145_510-144dup	NP_001123538.1:n.510-145_510-144dup
NM_006772.3:c.510-145_510-144dup MANE Select	NP_006763.2:n.510-145_510-144dup