Linked Data
gnomAD v4:
16-67437069-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67437073del , CM000678.2:g.67437073del | GRCh38 |
| NC_000016.9:g.67470976del , CM000678.1:g.67470976del | GRCh37 |
| NC_000016.8:g.66028477del | NCBI36 |
| NG_011482.1:g.49117del | |
| NG_016549.1:g.10941del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.*70del MANE Select | ENSP00000316786.5:n.*70del | |
| ENST00000326152.5:c.*70del | ENSP00000316786.5:n.*70del | |
| NM_000196.3:c.*70del | NP_000187.3:n.*70del | |
| NM_000196.4:c.*70del MANE Select | NP_000187.3:n.*70del |