Linked Data
gnomAD v4:
1-192811701-AGGAAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811702_192811707del , CM000663.2:g.192811702_192811707del | GRCh38 |
| NC_000001.10:g.192780832_192780837del , CM000663.1:g.192780832_192780837del | GRCh37 |
| NC_000001.9:g.191047455_191047460del | NCBI36 |
| NG_012800.1:g.7664_7669del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*106_*111del MANE Select | ENSP00000235382.5:n.*106_*111del | |
| ENST00000235382.6:c.*106_*111del | ENSP00000235382.5:n.*106_*111del | |
| NM_002923.3:c.*106_*111del | NP_002914.1:n.*106_*111del | |
| NM_002923.4:c.*106_*111del MANE Select | NP_002914.1:n.*106_*111del |