Canonical Allele Identifier: CA566431023

Gene: SYNGAP1

Linked Data

• dbSNP Id: rs1272053364
• gnomAD v2: 6-33402723-A-AAAAAAAAG
• gnomAD v3: 6-33434946-A-AAAAAAAAG
• gnomAD v4: 6-33434946-A-AAAAAAAAG
• MyVariant Identifiers: chr6:g.33402723_33402724insAAAAAAAG (hg19) ; chr6:g.33434946_33434947insAAAAAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33434954_33434961dup , CM000668.2:g.33434954_33434961dup	GRCh38
NC_000006.11:g.33402731_33402738dup , CM000668.1:g.33402731_33402738dup	GRCh37
NC_000006.10:g.33510709_33510716dup	NCBI36
NG_016137.1:g.19885_19892dup
NG_016137.2:g.19885_19892dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.252-198_252-191dup	ENSP00000507403.1:n.252-198_252-191dup
ENST00000418600.7:c.510-198_510-191dup	ENSP00000403636.3:n.510-198_510-191dup
ENST00000449372.7:c.510-198_510-191dup	ENSP00000416519.4:n.510-198_510-191dup
ENST00000629380.3:c.510-198_510-191dup	ENSP00000486463.1:n.510-198_510-191dup
ENST00000638142.2:c.510-198_510-191dup	ENSP00000490803.1:n.510-198_510-191dup
ENST00000644458.1:c.510-198_510-191dup	ENSP00000495541.1:n.510-198_510-191dup
ENST00000645250.1:c.333-198_333-191dup	ENSP00000494861.1:n.333-198_333-191dup
ENST00000646630.1:c.510-198_510-191dup MANE Select	ENSP00000496007.1:n.510-198_510-191dup
ENST00000293748.9:c.465-198_465-191dup	ENSP00000293748.6:n.465-198_465-191dup
ENST00000418600.6:c.510-198_510-191dup	ENSP00000403636.3:n.510-198_510-191dup
ENST00000428982.4:c.333-198_333-191dup	ENSP00000412475.2:n.333-198_333-191dup
ENST00000449372.6:c.510-198_510-191dup	ENSP00000416519.3:n.510-198_510-191dup
ENST00000479510.2:n.705-198_705-191dup
ENST00000628646.2:c.510-198_510-191dup	ENSP00000486431.1:n.510-198_510-191dup
ENST00000629380.2:c.510-198_510-191dup	ENSP00000486463.1:n.510-198_510-191dup
NM_006772.2:c.510-198_510-191dup	NP_006763.2:n.510-198_510-191dup
NM_001130066.1:c.510-198_510-191dup	NP_001123538.1:n.510-198_510-191dup
NM_001130066.2:c.510-198_510-191dup	NP_001123538.1:n.510-198_510-191dup
NM_006772.3:c.510-198_510-191dup MANE Select	NP_006763.2:n.510-198_510-191dup