Canonical Allele Identifier: CA1620014531
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33443187_33443188delinsGC , CM000668.2:g.33443187_33443188delinsGC GRCh38
NC_000006.11:g.33410964_33410965delinsGC , CM000668.1:g.33410964_33410965delinsGC GRCh37
NC_000006.10:g.33518942_33518943delinsGC NCBI36
NG_016137.1:g.28118_28119delinsGC
NG_016137.2:g.28118_28119delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.2377_2378delinsGC (SYNGAP1) ENSP00000507403.1:p.Ala793=
ENST00000418600.7:c.2635_2636delinsGC (SYNGAP1) ENSP00000403636.3:p.Ala879=
ENST00000449372.7:c.2593_2594delinsGC (SYNGAP1) ENSP00000416519.4:p.Ala865=
ENST00000629380.3:c.2635_2636delinsGC (SYNGAP1) ENSP00000486463.1:p.Ala879=
ENST00000644458.1:c.2635_2636delinsGC (SYNGAP1) ENSP00000495541.1:p.Ala879=
ENST00000645250.1:c.2458_2459delinsGC (SYNGAP1) ENSP00000494861.1:p.Ala820=
ENST00000646630.1:c.2635_2636delinsGC (SYNGAP1) MANE Select ENSP00000496007.1:p.Ala879=
ENST00000293748.9:c.2590_2591delinsGC (SYNGAP1) ENSP00000293748.6:p.Ala864=
ENST00000418600.6:c.2635_2636delinsGC (SYNGAP1) ENSP00000403636.3:p.Ala879=
ENST00000428982.4:c.2458_2459delinsGC (SYNGAP1) ENSP00000412475.2:p.Ala820=
ENST00000449372.6:c.2593_2594delinsGC (SYNGAP1) ENSP00000416519.3:p.Ala865=
ENST00000628646.2:c.2635_2636delinsGC (SYNGAP1) ENSP00000486431.1:p.Ala879=
ENST00000629380.2:c.2635_2636delinsGC (SYNGAP1) ENSP00000486463.1:p.Ala879=
NM_006772.2:c.2635_2636delinsGC (SYNGAP1) NP_006763.2:p.Ala879=
NM_001130066.1:c.2593_2594delinsGC (SYNGAP1) NP_001123538.1:p.Ala865=
NM_001130066.2:c.2593_2594delinsGC (SYNGAP1) NP_001123538.1:p.Ala865=
NM_006772.3:c.2635_2636delinsGC (SYNGAP1) MANE Select NP_006763.2:p.Ala879=
NR_174954.1:n.329+3418_329+3419delinsGC (SYNGAP1-AS1)