Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255315_133255370del , CM000671.2:g.133255315_133255370del | GRCh38 |
| NC_000009.11:g.136130702_136130757del , CM000671.1:g.136130702_136130757del | GRCh37 |
| NC_000009.10:g.135120523_135120578del | NCBI36 |
| NG_006669.1:g.22300_22355del | |
| NG_006669.2:g.24848_24903del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1392_1447del | ||
| ENST00000647353.1:n.54-4216_54-4161del | ||
| ENST00000679909.1:c.28+19794_28+19849del | ENSP00000506089.1:n.28+19794_28+19849del | |
| ENST00000453660.3:n.1374_1429del | ||
| ENST00000611156.4:c.*298_*353del | ENSP00000483265.1:n.*298_*353del | |
| NM_020469.2:c.*298_*353del | NP_065202.2:n.*298_*353del | |
| NM_020469.3:c.*298_*353del | NP_065202.2:n.*298_*353del |