Linked Data
ClinVar Variation Id:
217012
ClinVar RCV Id:
RCV000198471
dbSNP Id:
rs863224930
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33437801del , CM000668.2:g.33437801del | GRCh38 |
| NC_000006.11:g.33405578del , CM000668.1:g.33405578del | GRCh37 |
| NC_000006.10:g.33513556del | NCBI36 |
| NG_016137.1:g.22732del | |
| NG_016137.2:g.22732del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.638del (SYNGAP1) | ENSP00000507403.1:p.Arg213ProfsTer? | |
| ENST00000418600.7:c.896del (SYNGAP1) | ENSP00000403636.3:p.Arg299ProfsTer? | |
| ENST00000449372.7:c.896del (SYNGAP1) | ENSP00000416519.4:p.Arg299ProfsTer? | |
| ENST00000629380.3:c.896del (SYNGAP1) | ENSP00000486463.1:p.Arg299ProfsTer? | |
| ENST00000638142.2:c.896del (SYNGAP1) | ENSP00000490803.1:p.Arg299ProfsTer? | |
| ENST00000644458.1:c.896del (SYNGAP1) | ENSP00000495541.1:p.Arg299ProfsTer? | |
| ENST00000645250.1:c.719del (SYNGAP1) | ENSP00000494861.1:p.Arg240ProfsTer? | |
| ENST00000646630.1:c.896del (SYNGAP1) MANE Select | ENSP00000496007.1:p.Arg299ProfsTer? | |
| ENST00000293748.9:c.851del (SYNGAP1) | ENSP00000293748.6:p.Arg284ProfsTer? | |
| ENST00000418600.6:c.896del (SYNGAP1) | ENSP00000403636.3:p.Arg299ProfsTer? | |
| ENST00000428982.4:c.719del (SYNGAP1) | ENSP00000412475.2:p.Arg240ProfsTer? | |
| ENST00000449372.6:c.896del (SYNGAP1) | ENSP00000416519.3:p.Arg299ProfsTer? | |
| ENST00000479510.2:n.1091del (SYNGAP1) | ||
| ENST00000628646.2:c.896del (SYNGAP1) | ENSP00000486431.1:p.Arg299ProfsTer? | |
| ENST00000629380.2:c.896del (SYNGAP1) | ENSP00000486463.1:p.Arg299ProfsTer? | |
| NM_006772.2:c.896del (SYNGAP1) | NP_006763.2:p.Arg299ProfsTer? | |
| NM_001130066.1:c.896del (SYNGAP1) | NP_001123538.1:p.Arg299ProfsTer? | |
| NM_001130066.2:c.896del (SYNGAP1) | NP_001123538.1:p.Arg299ProfsTer? | |
| NM_006772.3:c.896del (SYNGAP1) MANE Select | NP_006763.2:p.Arg299ProfsTer? | |
| NR_174954.1:n.330-320del (SYNGAP1-AS1) |