Canonical Allele Identifier: CA1620017244
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33446962_33446963delinsAC , CM000668.2:g.33446962_33446963delinsAC GRCh38
NC_000006.11:g.33414739_33414740delinsAC , CM000668.1:g.33414739_33414740delinsAC GRCh37
NC_000006.10:g.33522717_33522718delinsAC NCBI36
NG_016137.1:g.31893_31894delinsAC
NG_016137.2:g.31893_31894delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.3536+176_3536+177delinsAC (SYNGAP1) ENSP00000507403.1:n.3536+176_3536+177delinsAC
ENST00000418600.7:c.3794+176_3794+177delinsAC (SYNGAP1) ENSP00000403636.3:n.3794+176_3794+177delinsAC
ENST00000449372.7:c.3746+176_3746+177delinsAC (SYNGAP1) ENSP00000416519.4:n.3746+176_3746+177delinsAC
ENST00000629380.3:c.3794+176_3794+177delinsAC (SYNGAP1) ENSP00000486463.1:n.3794+176_3794+177delinsAC
ENST00000636436.1:n.76+176_76+177delinsAC (SYNGAP1)
ENST00000644458.1:c.3794+176_3794+177delinsAC (SYNGAP1) ENSP00000495541.1:n.3794+176_3794+177delinsAC
ENST00000645250.1:c.3617+176_3617+177delinsAC (SYNGAP1) ENSP00000494861.1:n.3617+176_3617+177delinsAC
ENST00000646630.1:c.3794+176_3794+177delinsAC (SYNGAP1) MANE Select ENSP00000496007.1:n.3794+176_3794+177delinsAC
ENST00000293748.9:c.3749+176_3749+177delinsAC (SYNGAP1) ENSP00000293748.6:n.3749+176_3749+177delinsAC
ENST00000418600.6:c.3794+176_3794+177delinsAC (SYNGAP1) ENSP00000403636.3:n.3794+176_3794+177delinsAC
ENST00000428982.4:c.3617+176_3617+177delinsAC (SYNGAP1) ENSP00000412475.2:n.3617+176_3617+177delinsAC
ENST00000449372.6:c.3746+176_3746+177delinsAC (SYNGAP1) ENSP00000416519.3:n.3746+176_3746+177delinsAC
ENST00000470232.1:n.76+176_76+177delinsAC (SYNGAP1)
ENST00000628646.2:c.3794+176_3794+177delinsAC (SYNGAP1) ENSP00000486431.1:n.3794+176_3794+177delinsAC
ENST00000629380.2:c.3794+176_3794+177delinsAC (SYNGAP1) ENSP00000486463.1:n.3794+176_3794+177delinsAC
NM_006772.2:c.3794+176_3794+177delinsAC (SYNGAP1) NP_006763.2:n.3794+176_3794+177delinsAC
NM_001130066.1:c.3746+176_3746+177delinsAC (SYNGAP1) NP_001123538.1:n.3746+176_3746+177delinsAC
NM_001130066.2:c.3746+176_3746+177delinsAC (SYNGAP1) NP_001123538.1:n.3746+176_3746+177delinsAC
NM_006772.3:c.3794+176_3794+177delinsAC (SYNGAP1) MANE Select NP_006763.2:n.3794+176_3794+177delinsAC
NR_174954.1:n.137-165_137-164delinsGT (SYNGAP1-AS1)