Linked Data
gnomAD v4:
1-192811798-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811802_192811803del , CM000663.2:g.192811802_192811803del | GRCh38 |
| NC_000001.10:g.192780932_192780933del , CM000663.1:g.192780932_192780933del | GRCh37 |
| NC_000001.9:g.191047555_191047556del | NCBI36 |
| NG_012800.1:g.7764_7765del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*206_*207del MANE Select | ENSP00000235382.5:n.*206_*207del | |
| ENST00000235382.6:c.*206_*207del | ENSP00000235382.5:n.*206_*207del | |
| NM_002923.3:c.*206_*207del | NP_002914.1:n.*206_*207del | |
| NM_002923.4:c.*206_*207del MANE Select | NP_002914.1:n.*206_*207del |