Linked Data
dbSNP Id:
rs780421910
ExAC:
10:96540219 GT / G
gnomAD v2:
10-96540219-GT-G
gnomAD v4:
10-94780462-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780465del , CM000672.2:g.94780465del | GRCh38 |
| NC_000010.10:g.96540222del , CM000672.1:g.96540222del | GRCh37 |
| NC_000010.9:g.96530212del | NCBI36 |
| NG_008384.2:g.22760del | |
| NG_008384.3:g.22785del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.482-34del MANE Select | ENSP00000360372.3:n.482-34del | |
| ENST00000645461.1:n.1535-34del | ||
| ENST00000371321.7:c.482-34del | ENSP00000360372.3:n.482-34del | |
| ENST00000464755.1:c.1245-34del | ENSP00000483243.1:n.1245-34del | |
| NM_000769.2:c.482-34del | NP_000760.1:n.482-34del | |
| NM_000769.4:c.482-34del MANE Select | NP_000760.1:n.482-34del |