Linked Data
gnomAD v4:
12-69353424-GCAAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353425_69353428del , CM000674.2:g.69353425_69353428del | GRCh38 |
| NC_000012.11:g.69747205_69747208del , CM000674.1:g.69747205_69747208del | GRCh37 |
| NC_000012.10:g.68033472_68033475del | NCBI36 |
| NG_008195.1:g.10072_10075del , LRG_768:g.10072_10075del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*206_*209del MANE Select | ENSP00000261267.2:n.*206_*209del | |
| ENST00000261267.6:c.*206_*209del | ENSP00000261267.2:n.*206_*209del | |
| ENST00000549690.1:c.*160_*163del | ENSP00000449898.1:n.*160_*163del | |
| NM_000239.2:c.*206_*209del , LRG_768t1:c.*206_*209del | NP_000230.1:n.*206_*209del | |
| NM_000239.3:c.*206_*209del MANE Select | NP_000230.1:n.*206_*209del |