Linked Data
ClinVar Variation Id:
2696947
ClinVar RCV Id:
RCV003543719
dbSNP Id:
rs1198497895
gnomAD v2:
1-27023156-GCCGGCAGCGGCGGCGGGC-G
gnomAD v3:
1-26696665-GCCGGCAGCGGCGGCGGGC-G
gnomAD v4:
1-26696665-GCCGGCAGCGGCGGCGGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696671_26696688del , CM000663.2:g.26696671_26696688del | GRCh38 |
| NC_000001.10:g.27023162_27023179del , CM000663.1:g.27023162_27023179del | GRCh37 |
| NC_000001.9:g.26895749_26895766del | NCBI36 |
| NG_029965.1:g.5641_5658del , LRG_875:g.5641_5658del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.268_285del MANE Select | ENSP00000320485.7:p.Ser90_Gly95del | |
| ENST00000430799.7:c.-13+3054_-13+3071del | ENSP00000390317.3:n.-13+3054_-13+3071del | |
| ENST00000637465.1:c.-13+571_-13+588del | ENSP00000490650.1:n.-13+571_-13+588del | |
| ENST00000324856.11:c.268_285del | ENSP00000320485.7:p.Ser90_Gly95del | |
| ENST00000457599.6:c.268_285del | ENSP00000387636.2:p.Ser90_Gly95del | |
| NM_006015.4:c.268_285del , LRG_875t1:c.268_285del | NP_006006.3:p.Ser90_Gly95del | |
| NM_139135.2:c.268_285del | NP_624361.1:p.Ser90_Gly95del | |
| NM_006015.5:c.268_285del | NP_006006.3:p.Ser90_Gly95del | |
| NM_139135.3:c.268_285del | NP_624361.1:p.Ser90_Gly95del | |
| NM_006015.6:c.268_285del MANE Select | NP_006006.3:p.Ser90_Gly95del | |
| NM_139135.4:c.268_285del | NP_624361.1:p.Ser90_Gly95del |