Canonical Allele Identifier: CA2678271298
Gene: SYNGAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33432880del , CM000668.2:g.33432880del GRCh38
NC_000006.11:g.33400657del , CM000668.1:g.33400657del GRCh37
NC_000006.10:g.33508635del NCBI36
NG_016137.1:g.17811del
NG_016137.2:g.17811del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.251+74del ENSP00000507403.1:n.251+74del
ENST00000418600.7:c.509+74del ENSP00000403636.3:n.509+74del
ENST00000449372.7:c.509+74del ENSP00000416519.4:n.509+74del
ENST00000629380.3:c.509+74del ENSP00000486463.1:n.509+74del
ENST00000638142.2:c.509+74del ENSP00000490803.1:n.509+74del
ENST00000644458.1:c.509+74del ENSP00000495541.1:n.509+74del
ENST00000645250.1:c.332+74del ENSP00000494861.1:n.332+74del
ENST00000646630.1:c.509+74del MANE Select ENSP00000496007.1:n.509+74del
ENST00000293748.9:c.464+74del ENSP00000293748.6:n.464+74del
ENST00000418600.6:c.509+74del ENSP00000403636.3:n.509+74del
ENST00000428982.4:c.332+74del ENSP00000412475.2:n.332+74del
ENST00000449372.6:c.509+74del ENSP00000416519.3:n.509+74del
ENST00000479510.2:n.704+74del
ENST00000628646.2:c.509+74del ENSP00000486431.1:n.509+74del
ENST00000629380.2:c.509+74del ENSP00000486463.1:n.509+74del
NM_006772.2:c.509+74del NP_006763.2:n.509+74del
NM_001130066.1:c.509+74del NP_001123538.1:n.509+74del
NM_001130066.2:c.509+74del NP_001123538.1:n.509+74del
NM_006772.3:c.509+74del MANE Select NP_006763.2:n.509+74del