Canonical Allele Identifier: CA1620014550
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33443226_33443227delinsTC , CM000668.2:g.33443226_33443227delinsTC GRCh38
NC_000006.11:g.33411003_33411004delinsTC , CM000668.1:g.33411003_33411004delinsTC GRCh37
NC_000006.10:g.33518981_33518982delinsTC NCBI36
NG_016137.1:g.28157_28158delinsTC
NG_016137.2:g.28157_28158delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.2416_2417delinsTC (SYNGAP1) ENSP00000507403.1:p.Ser806=
ENST00000418600.7:c.2674_2675delinsTC (SYNGAP1) ENSP00000403636.3:p.Ser892=
ENST00000449372.7:c.2632_2633delinsTC (SYNGAP1) ENSP00000416519.4:p.Ser878=
ENST00000629380.3:c.2674_2675delinsTC (SYNGAP1) ENSP00000486463.1:p.Ser892=
ENST00000644458.1:c.2674_2675delinsTC (SYNGAP1) ENSP00000495541.1:p.Ser892=
ENST00000645250.1:c.2497_2498delinsTC (SYNGAP1) ENSP00000494861.1:p.Ser833=
ENST00000646630.1:c.2674_2675delinsTC (SYNGAP1) MANE Select ENSP00000496007.1:p.Ser892=
ENST00000293748.9:c.2629_2630delinsTC (SYNGAP1) ENSP00000293748.6:p.Ser877=
ENST00000418600.6:c.2674_2675delinsTC (SYNGAP1) ENSP00000403636.3:p.Ser892=
ENST00000428982.4:c.2497_2498delinsTC (SYNGAP1) ENSP00000412475.2:p.Ser833=
ENST00000449372.6:c.2632_2633delinsTC (SYNGAP1) ENSP00000416519.3:p.Ser878=
ENST00000628646.2:c.2674_2675delinsTC (SYNGAP1) ENSP00000486431.1:p.Ser892=
ENST00000629380.2:c.2674_2675delinsTC (SYNGAP1) ENSP00000486463.1:p.Ser892=
NM_006772.2:c.2674_2675delinsTC (SYNGAP1) NP_006763.2:p.Ser892=
NM_001130066.1:c.2632_2633delinsTC (SYNGAP1) NP_001123538.1:p.Ser878=
NM_001130066.2:c.2632_2633delinsTC (SYNGAP1) NP_001123538.1:p.Ser878=
NM_006772.3:c.2674_2675delinsTC (SYNGAP1) MANE Select NP_006763.2:p.Ser892=
NR_174954.1:n.329+3379_329+3380delinsGA (SYNGAP1-AS1)