Linked Data
dbSNP Id:
rs1440219342
gnomAD v2:
6-33414308-G-GTGGGGCGCCCCTC
gnomAD v4:
6-33446531-G-GTGGGGCGCCCCTC
MyVariant Identifiers:
chr6:g.33414308_33414309insTGGGGCGCCCCTC (hg19)
chr6:g.33446531_33446532insTGGGGCGCCCCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33446532_33446544dup , CM000668.2:g.33446532_33446544dup | GRCh38 |
| NC_000006.11:g.33414309_33414321dup , CM000668.1:g.33414309_33414321dup | GRCh37 |
| NC_000006.10:g.33522287_33522299dup | NCBI36 |
| NG_016137.1:g.31463_31475dup | |
| NG_016137.2:g.31463_31475dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.3325-43_3325-31dup (SYNGAP1) | ENSP00000507403.1:n.3325-43_3325-31dup | |
| ENST00000418600.7:c.3583-43_3583-31dup (SYNGAP1) | ENSP00000403636.3:n.3583-43_3583-31dup | |
| ENST00000449372.7:c.3541-49_3541-37dup (SYNGAP1) | ENSP00000416519.4:n.3541-49_3541-37dup | |
| ENST00000629380.3:c.3583-43_3583-31dup (SYNGAP1) | ENSP00000486463.1:n.3583-43_3583-31dup | |
| ENST00000644458.1:c.3583-43_3583-31dup (SYNGAP1) | ENSP00000495541.1:n.3583-43_3583-31dup | |
| ENST00000645250.1:c.3406-43_3406-31dup (SYNGAP1) | ENSP00000494861.1:n.3406-43_3406-31dup | |
| ENST00000646630.1:c.3583-43_3583-31dup (SYNGAP1) MANE Select | ENSP00000496007.1:n.3583-43_3583-31dup | |
| ENST00000293748.9:c.3538-43_3538-31dup (SYNGAP1) | ENSP00000293748.6:n.3538-43_3538-31dup | |
| ENST00000418600.6:c.3583-43_3583-31dup (SYNGAP1) | ENSP00000403636.3:n.3583-43_3583-31dup | |
| ENST00000428982.4:c.3406-43_3406-31dup (SYNGAP1) | ENSP00000412475.2:n.3406-43_3406-31dup | |
| ENST00000449372.6:c.3541-49_3541-37dup (SYNGAP1) | ENSP00000416519.3:n.3541-49_3541-37dup | |
| ENST00000628646.2:c.3583-43_3583-31dup (SYNGAP1) | ENSP00000486431.1:n.3583-43_3583-31dup | |
| ENST00000629380.2:c.3583-43_3583-31dup (SYNGAP1) | ENSP00000486463.1:n.3583-43_3583-31dup | |
| NM_006772.2:c.3583-43_3583-31dup (SYNGAP1) | NP_006763.2:n.3583-43_3583-31dup | |
| NM_001130066.1:c.3541-49_3541-37dup (SYNGAP1) | NP_001123538.1:n.3541-49_3541-37dup | |
| NM_001130066.2:c.3541-49_3541-37dup (SYNGAP1) | NP_001123538.1:n.3541-49_3541-37dup | |
| NM_006772.3:c.3583-43_3583-31dup (SYNGAP1) MANE Select | NP_006763.2:n.3583-43_3583-31dup | |
| NR_174954.1:n.329+62_329+74dup (SYNGAP1-AS1) |