Linked Data
ClinVar Variation Id:
976365
ClinVar RCV Id:
RCV001253645
dbSNP Id:
rs2080257947
gnomAD v4:
1-26696656-GGCGGCGGAGCCGGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696664_26696678del , CM000663.2:g.26696664_26696678del | GRCh38 |
| NC_000001.10:g.27023155_27023169del , CM000663.1:g.27023155_27023169del | GRCh37 |
| NC_000001.9:g.26895742_26895756del | NCBI36 |
| NG_029965.1:g.5634_5648del , LRG_875:g.5634_5648del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.261_275del MANE Select | ENSP00000320485.7:p.Ala88_Gly92del | |
| ENST00000430799.7:c.-13+3047_-13+3061del | ENSP00000390317.3:n.-13+3047_-13+3061del | |
| ENST00000637465.1:c.-13+564_-13+578del | ENSP00000490650.1:n.-13+564_-13+578del | |
| ENST00000324856.11:c.261_275del | ENSP00000320485.7:p.Ala88_Gly92del | |
| ENST00000457599.6:c.261_275del | ENSP00000387636.2:p.Ala88_Gly92del | |
| NM_006015.4:c.261_275del , LRG_875t1:c.261_275del | NP_006006.3:p.Ala88_Gly92del | |
| NM_139135.2:c.261_275del | NP_624361.1:p.Ala88_Gly92del | |
| NM_006015.5:c.261_275del | NP_006006.3:p.Ala88_Gly92del | |
| NM_139135.3:c.261_275del | NP_624361.1:p.Ala88_Gly92del | |
| NM_006015.6:c.261_275del MANE Select | NP_006006.3:p.Ala88_Gly92del | |
| NM_139135.4:c.261_275del | NP_624361.1:p.Ala88_Gly92del |