Linked Data
gnomAD v4:
8-47960253-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960255del , CM000670.2:g.47960255del | GRCh38 |
| NC_000008.10:g.48872815del , CM000670.1:g.48872815del | GRCh37 |
| NC_000008.9:g.49035368del | NCBI36 |
| NG_023435.1:g.4930del , LRG_162:g.4930del | |
| NG_032967.1:g.5053del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-80del | ENSP00000430329.1:n.-80del | |
| NM_005914.3:c.-890del | NP_005905.2:n.-890del | |
| NM_182746.2:c.-774del | NP_877423.1:n.-774del |