Canonical Allele Identifier: CA566430723

Gene: SYNGAP1

Linked Data

• gnomAD v2: 6-33400434-A-ACCCCCC
• gnomAD v3: 6-33432657-A-ACCCCCC
• gnomAD v4: 6-33432657-A-ACCCCCC
• MyVariant Identifiers: chr6:g.33400437_33400438insCCCCCC (hg19) ; chr6:g.33432660_33432661insCCCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432660_33432661insCCCCCC , CM000668.2:g.33432660_33432661insCCCCCC	GRCh38
NC_000006.11:g.33400437_33400438insCCCCCC , CM000668.1:g.33400437_33400438insCCCCCC	GRCh37
NC_000006.10:g.33508415_33508416insCCCCCC	NCBI36
NG_016137.1:g.17591_17592insCCCCCC
NG_016137.2:g.17591_17592insCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.130-25_130-24insCCCCCC	ENSP00000507403.1:n.130-25_130-24insCCCCCC
ENST00000418600.7:c.388-25_388-24insCCCCCC	ENSP00000403636.3:n.388-25_388-24insCCCCCC
ENST00000449372.7:c.388-25_388-24insCCCCCC	ENSP00000416519.4:n.388-25_388-24insCCCCCC
ENST00000629380.3:c.388-25_388-24insCCCCCC	ENSP00000486463.1:n.388-25_388-24insCCCCCC
ENST00000638142.2:c.388-25_388-24insCCCCCC	ENSP00000490803.1:n.388-25_388-24insCCCCCC
ENST00000644458.1:c.388-25_388-24insCCCCCC	ENSP00000495541.1:n.388-25_388-24insCCCCCC
ENST00000645250.1:c.211-25_211-24insCCCCCC	ENSP00000494861.1:n.211-25_211-24insCCCCCC
ENST00000646630.1:c.388-25_388-24insCCCCCC MANE Select	ENSP00000496007.1:n.388-25_388-24insCCCCCC
ENST00000293748.9:c.343-25_343-24insCCCCCC	ENSP00000293748.6:n.343-25_343-24insCCCCCC
ENST00000418600.6:c.388-25_388-24insCCCCCC	ENSP00000403636.3:n.388-25_388-24insCCCCCC
ENST00000428982.4:c.211-25_211-24insCCCCCC	ENSP00000412475.2:n.211-25_211-24insCCCCCC
ENST00000449372.6:c.388-25_388-24insCCCCCC	ENSP00000416519.3:n.388-25_388-24insCCCCCC
ENST00000479510.2:n.583-25_583-24insCCCCCC
ENST00000628646.2:c.388-25_388-24insCCCCCC	ENSP00000486431.1:n.388-25_388-24insCCCCCC
ENST00000629380.2:c.388-25_388-24insCCCCCC	ENSP00000486463.1:n.388-25_388-24insCCCCCC
NM_006772.2:c.388-25_388-24insCCCCCC	NP_006763.2:n.388-25_388-24insCCCCCC
NM_001130066.1:c.388-25_388-24insCCCCCC	NP_001123538.1:n.388-25_388-24insCCCCCC
NM_001130066.2:c.388-25_388-24insCCCCCC	NP_001123538.1:n.388-25_388-24insCCCCCC
NM_006772.3:c.388-25_388-24insCCCCCC MANE Select	NP_006763.2:n.388-25_388-24insCCCCCC