Canonical Allele Identifier: CA2678270945

Gene: SYNGAP1

Linked Data

• gnomAD v4: 6-33432681-CCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432684_33432686del , CM000668.2:g.33432684_33432686del	GRCh38
NC_000006.11:g.33400461_33400463del , CM000668.1:g.33400461_33400463del	GRCh37
NC_000006.10:g.33508439_33508441del	NCBI36
NG_016137.1:g.17615_17617del
NG_016137.2:g.17615_17617del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.130-1_131del
ENST00000418600.7:c.388-1_389del
ENST00000449372.7:c.388-1_389del
ENST00000629380.3:c.388-1_389del
ENST00000638142.2:c.388-1_389del
ENST00000644458.1:c.388-1_389del
ENST00000645250.1:c.211-1_212del
ENST00000646630.1:c.388-1_389del
ENST00000293748.9:c.343-1_344del
ENST00000418600.6:c.388-1_389del
ENST00000428982.4:c.211-1_212del
ENST00000449372.6:c.388-1_389del
ENST00000479510.2:n.583-1_584del
ENST00000628646.2:c.388-1_389del
ENST00000629380.2:c.388-1_389del
NM_006772.2:c.388-1_389del
NM_001130066.1:c.388-1_389del
NM_001130066.2:c.388-1_389del
NM_006772.3:c.388-1_389del