Linked Data
gnomAD v4:
10-30313502-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313503del , CM000672.2:g.30313503del | GRCh38 |
| NC_000010.10:g.30602432del , CM000672.1:g.30602432del | GRCh37 |
| NC_000010.9:g.30642438del | NCBI36 |
| NG_028096.1:g.40836del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.*106del MANE Select | ENSP00000263063.3:n.*106del | |
| ENST00000263063.8:c.*106del | ENSP00000263063.3:n.*106del | |
| ENST00000488290.5:n.3610del | ||
| NM_018109.3:c.*106del | NP_060579.3:n.*106del | |
| NM_018109.4:c.*106del MANE Select | NP_060579.3:n.*106del |