MyVariant.info:
GRCh38
chr6:g.33440835del
GRCh38
chr6:g.33440834del
GRCh37
chr6:g.33408612del
GRCh37
chr6:g.33408611del
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33440835del , CM000668.2:g.33440835del | GRCh38 |
| NC_000006.11:g.33408612del , CM000668.1:g.33408612del | GRCh37 |
| NC_000006.10:g.33516590del | NCBI36 |
| NG_016137.1:g.25766del | |
| NG_016137.2:g.25766del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.1525del (SYNGAP1) | ENSP00000507403.1:p.Leu509CysfsTer? | |
| ENST00000418600.7:c.1783del (SYNGAP1) | ENSP00000403636.3:p.Leu595CysfsTer? | |
| ENST00000449372.7:c.1783del (SYNGAP1) | ENSP00000416519.4:p.Leu595CysfsTer? | |
| ENST00000629380.3:c.1783del (SYNGAP1) | ENSP00000486463.1:p.Leu595CysfsTer? | |
| ENST00000638142.2:c.*180del (SYNGAP1) | ENSP00000490803.1:n.*180del | |
| ENST00000644458.1:c.1783del (SYNGAP1) | ENSP00000495541.1:p.Leu595CysfsTer? | |
| ENST00000645250.1:c.1606del (SYNGAP1) | ENSP00000494861.1:p.Leu536CysfsTer? | |
| ENST00000646630.1:c.1783del (SYNGAP1) MANE Select | ENSP00000496007.1:p.Leu595CysfsTer? | |
| ENST00000293748.9:c.1738del (SYNGAP1) | ENSP00000293748.6:p.Leu580CysfsTer? | |
| ENST00000418600.6:c.1783del (SYNGAP1) | ENSP00000403636.3:p.Leu595CysfsTer? | |
| ENST00000428982.4:c.1606del (SYNGAP1) | ENSP00000412475.2:p.Leu536CysfsTer? | |
| ENST00000449372.6:c.1783del (SYNGAP1) | ENSP00000416519.3:p.Leu595CysfsTer? | |
| ENST00000628646.2:c.1783del (SYNGAP1) | ENSP00000486431.1:p.Leu595CysfsTer? | |
| ENST00000629380.2:c.1783del (SYNGAP1) | ENSP00000486463.1:p.Leu595CysfsTer? | |
| NM_006772.2:c.1783del (SYNGAP1) | NP_006763.2:p.Leu595CysfsTer? | |
| NM_001130066.1:c.1783del (SYNGAP1) | NP_001123538.1:p.Leu595CysfsTer? | |
| NM_001130066.2:c.1783del (SYNGAP1) | NP_001123538.1:p.Leu595CysfsTer? | |
| NM_006772.3:c.1783del (SYNGAP1) MANE Select | NP_006763.2:p.Leu595CysfsTer? | |
| NR_174954.1:n.330-3353del (SYNGAP1-AS1) |