Canonical Allele Identifier: CA2678270727

Gene: SYNGAP1

Linked Data

• gnomAD v4: 6-33432665-C-CCCCCCCCCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432665_33432666insCCCCCCCCAAA , CM000668.2:g.33432665_33432666insCCCCCCCCAAA	GRCh38
NC_000006.11:g.33400442_33400443insCCCCCCCCAAA , CM000668.1:g.33400442_33400443insCCCCCCCCAAA	GRCh37
NC_000006.10:g.33508420_33508421insCCCCCCCCAAA	NCBI36
NG_016137.1:g.17596_17597insCCCCCCCCAAA
NG_016137.2:g.17596_17597insCCCCCCCCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.130-20_130-19insCCCCCCCCAAA	ENSP00000507403.1:n.130-20_130-19insCCCCCCCCAAA
ENST00000418600.7:c.388-20_388-19insCCCCCCCCAAA	ENSP00000403636.3:n.388-20_388-19insCCCCCCCCAAA
ENST00000449372.7:c.388-20_388-19insCCCCCCCCAAA	ENSP00000416519.4:n.388-20_388-19insCCCCCCCCAAA
ENST00000629380.3:c.388-20_388-19insCCCCCCCCAAA	ENSP00000486463.1:n.388-20_388-19insCCCCCCCCAAA
ENST00000638142.2:c.388-20_388-19insCCCCCCCCAAA	ENSP00000490803.1:n.388-20_388-19insCCCCCCCCAAA
ENST00000644458.1:c.388-20_388-19insCCCCCCCCAAA	ENSP00000495541.1:n.388-20_388-19insCCCCCCCCAAA
ENST00000645250.1:c.211-20_211-19insCCCCCCCCAAA	ENSP00000494861.1:n.211-20_211-19insCCCCCCCCAAA
ENST00000646630.1:c.388-20_388-19insCCCCCCCCAAA MANE Select	ENSP00000496007.1:n.388-20_388-19insCCCCCCCCAAA
ENST00000293748.9:c.343-20_343-19insCCCCCCCCAAA	ENSP00000293748.6:n.343-20_343-19insCCCCCCCCAAA
ENST00000418600.6:c.388-20_388-19insCCCCCCCCAAA	ENSP00000403636.3:n.388-20_388-19insCCCCCCCCAAA
ENST00000428982.4:c.211-20_211-19insCCCCCCCCAAA	ENSP00000412475.2:n.211-20_211-19insCCCCCCCCAAA
ENST00000449372.6:c.388-20_388-19insCCCCCCCCAAA	ENSP00000416519.3:n.388-20_388-19insCCCCCCCCAAA
ENST00000479510.2:n.583-20_583-19insCCCCCCCCAAA
ENST00000628646.2:c.388-20_388-19insCCCCCCCCAAA	ENSP00000486431.1:n.388-20_388-19insCCCCCCCCAAA
ENST00000629380.2:c.388-20_388-19insCCCCCCCCAAA	ENSP00000486463.1:n.388-20_388-19insCCCCCCCCAAA
NM_006772.2:c.388-20_388-19insCCCCCCCCAAA	NP_006763.2:n.388-20_388-19insCCCCCCCCAAA
NM_001130066.1:c.388-20_388-19insCCCCCCCCAAA	NP_001123538.1:n.388-20_388-19insCCCCCCCCAAA
NM_001130066.2:c.388-20_388-19insCCCCCCCCAAA	NP_001123538.1:n.388-20_388-19insCCCCCCCCAAA
NM_006772.3:c.388-20_388-19insCCCCCCCCAAA MANE Select	NP_006763.2:n.388-20_388-19insCCCCCCCCAAA