Linked Data
ClinVar Variation Id:
1254644
dbSNP Id:
rs150254629
ExAC:
14:21861699 GGAA / G
gnomAD v2:
14-21861699-GGAA-G
gnomAD v3:
14-21393540-GGAA-G
gnomAD v4:
14-21393540-GGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21393552_21393554del , CM000676.2:g.21393552_21393554del | GRCh38 |
| NC_000014.8:g.21861711_21861713del , CM000676.1:g.21861711_21861713del | GRCh37 |
| NC_000014.7:g.20931551_20931553del | NCBI36 |
| NG_021249.1:g.48756_48758del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.5415_5417del | ENSP00000406288.3:p.Ser1806del | |
| ENST00000555935.2:c.3952_3954del | ||
| ENST00000557364.6:c.6252_6254del | ENSP00000451601.1:p.Ser2085del | |
| ENST00000643469.1:c.6252_6254del | ENSP00000495070.1:p.Ser2085del | |
| ENST00000645206.1:n.5408_5410del | ||
| ENST00000645929.1:c.5415_5417del | ENSP00000494402.1:p.Ser1806del | |
| ENST00000646647.2:c.6252_6254del MANE Select | ENSP00000495240.1:p.Ser2085del | |
| ENST00000399982.6:c.6252_6254del | ENSP00000382863.2:p.Ser2085del | |
| ENST00000430710.7:c.5415_5417del | ENSP00000406288.3:p.Ser1806del | |
| ENST00000557364.5:c.6252_6254del | ENSP00000451601.1:p.Ser2085del | |
| NM_001170629.1:c.6252_6254del | NP_001164100.1:p.Ser2085del | |
| NM_020920.3:c.5415_5417del | NP_065971.2:p.Ser1806del | |
| NM_001170629.2:c.6252_6254del MANE Select | NP_001164100.1:p.Ser2085del | |
| NM_020920.4:c.5415_5417del | NP_065971.2:p.Ser1806del |