Linked Data
dbSNP Id:
rs754954482
ExAC:
6:33414572 C / CGGCCT
gnomAD v2:
6-33414572-C-CGGCCT
gnomAD v4:
6-33446795-C-CGGCCT
MyVariant Identifiers:
chr6:g.33414572_33414573insGGCCT (hg19)
chr6:g.33446795_33446796insGGCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33446798_33446802dup , CM000668.2:g.33446798_33446802dup | GRCh38 |
| NC_000006.11:g.33414575_33414579dup , CM000668.1:g.33414575_33414579dup | GRCh37 |
| NC_000006.10:g.33522553_33522557dup | NCBI36 |
| NG_016137.1:g.31729_31733dup | |
| NG_016137.2:g.31729_31733dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.3536+12_3536+16dup (SYNGAP1) | ENSP00000507403.1:n.3536+12_3536+16dup | |
| ENST00000418600.7:c.3794+12_3794+16dup (SYNGAP1) | ENSP00000403636.3:n.3794+12_3794+16dup | |
| ENST00000449372.7:c.3746+12_3746+16dup (SYNGAP1) | ENSP00000416519.4:n.3746+12_3746+16dup | |
| ENST00000629380.3:c.3794+12_3794+16dup (SYNGAP1) | ENSP00000486463.1:n.3794+12_3794+16dup | |
| ENST00000636436.1:n.76+12_76+16dup (SYNGAP1) | ||
| ENST00000644458.1:c.3794+12_3794+16dup (SYNGAP1) | ENSP00000495541.1:n.3794+12_3794+16dup | |
| ENST00000645250.1:c.3617+12_3617+16dup (SYNGAP1) | ENSP00000494861.1:n.3617+12_3617+16dup | |
| ENST00000646630.1:c.3794+12_3794+16dup (SYNGAP1) MANE Select | ENSP00000496007.1:n.3794+12_3794+16dup | |
| ENST00000293748.9:c.3749+12_3749+16dup (SYNGAP1) | ENSP00000293748.6:n.3749+12_3749+16dup | |
| ENST00000418600.6:c.3794+12_3794+16dup (SYNGAP1) | ENSP00000403636.3:n.3794+12_3794+16dup | |
| ENST00000428982.4:c.3617+12_3617+16dup (SYNGAP1) | ENSP00000412475.2:n.3617+12_3617+16dup | |
| ENST00000449372.6:c.3746+12_3746+16dup (SYNGAP1) | ENSP00000416519.3:n.3746+12_3746+16dup | |
| ENST00000470232.1:n.76+12_76+16dup (SYNGAP1) | ||
| ENST00000628646.2:c.3794+12_3794+16dup (SYNGAP1) | ENSP00000486431.1:n.3794+12_3794+16dup | |
| ENST00000629380.2:c.3794+12_3794+16dup (SYNGAP1) | ENSP00000486463.1:n.3794+12_3794+16dup | |
| NM_006772.2:c.3794+12_3794+16dup (SYNGAP1) | NP_006763.2:n.3794+12_3794+16dup | |
| NM_001130066.1:c.3746+12_3746+16dup (SYNGAP1) | NP_001123538.1:n.3746+12_3746+16dup | |
| NM_001130066.2:c.3746+12_3746+16dup (SYNGAP1) | NP_001123538.1:n.3746+12_3746+16dup | |
| NM_006772.3:c.3794+12_3794+16dup (SYNGAP1) MANE Select | NP_006763.2:n.3794+12_3794+16dup | |
| NR_174954.1:n.137-2_139dup (SYNGAP1-AS1) |