Linked Data
gnomAD v4:
17-4734252-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734254del , CM000679.2:g.4734254del | GRCh38 |
| NC_000017.10:g.4637549del , CM000679.1:g.4637549del | GRCh37 |
| NC_000017.9:g.4584298del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*250del MANE Select | ENSP00000293778.7:n.*250del | |
| ENST00000293778.10:c.*250del | ENSP00000293778.6:n.*250del | |
| ENST00000576153.5:n.806del | ||
| NM_022059.3:c.*250del | NP_071342.2:n.*250del | |
| NM_022059.4:c.*250del | NP_071342.2:n.*250del | |
| NM_001386809.1:c.*250del MANE Select | NP_001373738.1:n.*250del |