Canonical Allele Identifier: CA2678270183

Gene: SYNGAP1

Linked Data

• gnomAD v4: 6-33432651-G-GCCCCAAACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432657_33432658insACCCCCCCCAA , CM000668.2:g.33432657_33432658insACCCCCCCCAA	GRCh38
NC_000006.11:g.33400434_33400435insACCCCCCCCAA , CM000668.1:g.33400434_33400435insACCCCCCCCAA	GRCh37
NC_000006.10:g.33508412_33508413insACCCCCCCCAA	NCBI36
NG_016137.1:g.17588_17589insACCCCCCCCAA
NG_016137.2:g.17588_17589insACCCCCCCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.130-28_130-27insACCCCCCCCAA	ENSP00000507403.1:n.130-28_130-27insACCCCCCCCAA
ENST00000418600.7:c.388-28_388-27insACCCCCCCCAA	ENSP00000403636.3:n.388-28_388-27insACCCCCCCCAA
ENST00000449372.7:c.388-28_388-27insACCCCCCCCAA	ENSP00000416519.4:n.388-28_388-27insACCCCCCCCAA
ENST00000629380.3:c.388-28_388-27insACCCCCCCCAA	ENSP00000486463.1:n.388-28_388-27insACCCCCCCCAA
ENST00000638142.2:c.388-28_388-27insACCCCCCCCAA	ENSP00000490803.1:n.388-28_388-27insACCCCCCCCAA
ENST00000644458.1:c.388-28_388-27insACCCCCCCCAA	ENSP00000495541.1:n.388-28_388-27insACCCCCCCCAA
ENST00000645250.1:c.211-28_211-27insACCCCCCCCAA	ENSP00000494861.1:n.211-28_211-27insACCCCCCCCAA
ENST00000646630.1:c.388-28_388-27insACCCCCCCCAA MANE Select	ENSP00000496007.1:n.388-28_388-27insACCCCCCCCAA
ENST00000293748.9:c.343-28_343-27insACCCCCCCCAA	ENSP00000293748.6:n.343-28_343-27insACCCCCCCCAA
ENST00000418600.6:c.388-28_388-27insACCCCCCCCAA	ENSP00000403636.3:n.388-28_388-27insACCCCCCCCAA
ENST00000428982.4:c.211-28_211-27insACCCCCCCCAA	ENSP00000412475.2:n.211-28_211-27insACCCCCCCCAA
ENST00000449372.6:c.388-28_388-27insACCCCCCCCAA	ENSP00000416519.3:n.388-28_388-27insACCCCCCCCAA
ENST00000479510.2:n.583-28_583-27insACCCCCCCCAA
ENST00000628646.2:c.388-28_388-27insACCCCCCCCAA	ENSP00000486431.1:n.388-28_388-27insACCCCCCCCAA
ENST00000629380.2:c.388-28_388-27insACCCCCCCCAA	ENSP00000486463.1:n.388-28_388-27insACCCCCCCCAA
NM_006772.2:c.388-28_388-27insACCCCCCCCAA	NP_006763.2:n.388-28_388-27insACCCCCCCCAA
NM_001130066.1:c.388-28_388-27insACCCCCCCCAA	NP_001123538.1:n.388-28_388-27insACCCCCCCCAA
NM_001130066.2:c.388-28_388-27insACCCCCCCCAA	NP_001123538.1:n.388-28_388-27insACCCCCCCCAA
NM_006772.3:c.388-28_388-27insACCCCCCCCAA MANE Select	NP_006763.2:n.388-28_388-27insACCCCCCCCAA