Linked Data
ClinVar Variation Id:
212349
ClinVar RCV Id:
RCV000194556
dbSNP Id:
rs797046029
MyVariant Identifiers:
chr6:g.33409102_33409107delinsC (hg19)
chr6:g.33441325_33441330delinsC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33441325_33441330delinsC , CM000668.2:g.33441325_33441330delinsC | GRCh38 |
| NC_000006.11:g.33409102_33409107delinsC , CM000668.1:g.33409102_33409107delinsC | GRCh37 |
| NC_000006.10:g.33517080_33517085delinsC | NCBI36 |
| NG_016137.1:g.26256_26261delinsC | |
| NG_016137.2:g.26256_26261delinsC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682587.1:c.1808_1813delinsC (SYNGAP1) | ENSP00000507403.1:p.Leu603ProfsTer? | |
| ENST00000418600.7:c.2066_2071delinsC (SYNGAP1) | ENSP00000403636.3:p.Leu689ProfsTer? | |
| ENST00000449372.7:c.2066_2071delinsC (SYNGAP1) | ENSP00000416519.4:p.Leu689ProfsTer? | |
| ENST00000629380.3:c.2066_2071delinsC (SYNGAP1) | ENSP00000486463.1:p.Leu689ProfsTer? | |
| ENST00000636193.1:n.18_23delinsC (SYNGAP1) | ||
| ENST00000638142.2:c.*463_*468delinsC (SYNGAP1) | ENSP00000490803.1:n.*463_*468delinsC | |
| ENST00000644458.1:c.2066_2071delinsC (SYNGAP1) | ENSP00000495541.1:p.Leu689ProfsTer? | |
| ENST00000645250.1:c.1889_1894delinsC (SYNGAP1) | ENSP00000494861.1:p.Leu630ProfsTer? | |
| ENST00000646630.1:c.2066_2071delinsC (SYNGAP1) MANE Select | ENSP00000496007.1:p.Leu689ProfsTer? | |
| ENST00000293748.9:c.2021_2026delinsC (SYNGAP1) | ENSP00000293748.6:p.Leu674ProfsTer? | |
| ENST00000418600.6:c.2066_2071delinsC (SYNGAP1) | ENSP00000403636.3:p.Leu689ProfsTer? | |
| ENST00000428982.4:c.1889_1894delinsC (SYNGAP1) | ENSP00000412475.2:p.Leu630ProfsTer? | |
| ENST00000449372.6:c.2066_2071delinsC (SYNGAP1) | ENSP00000416519.3:p.Leu689ProfsTer? | |
| ENST00000628646.2:c.2066_2071delinsC (SYNGAP1) | ENSP00000486431.1:p.Leu689ProfsTer? | |
| ENST00000629380.2:c.2066_2071delinsC (SYNGAP1) | ENSP00000486463.1:p.Leu689ProfsTer? | |
| NM_006772.2:c.2066_2071delinsC (SYNGAP1) | NP_006763.2:p.Leu689ProfsTer? | |
| NM_001130066.1:c.2066_2071delinsC (SYNGAP1) | NP_001123538.1:p.Leu689ProfsTer? | |
| NM_001130066.2:c.2066_2071delinsC (SYNGAP1) | NP_001123538.1:p.Leu689ProfsTer? | |
| NM_006772.3:c.2066_2071delinsC (SYNGAP1) MANE Select | NP_006763.2:p.Leu689ProfsTer? | |
| NR_174954.1:n.330-3849_330-3844delinsG (SYNGAP1-AS1) |