Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044889del , CM000663.2:g.17044889del | GRCh38 |
| NC_000001.10:g.17371384del , CM000663.1:g.17371384del | GRCh37 |
| NC_000001.9:g.17243971del | NCBI36 |
| NG_012340.1:g.14283del , LRG_316:g.14283del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-99del | ||
| ENST00000491274.6:c.31del | ||
| ENST00000375499.8:c.73del | ||
| ENST00000375499.7:c.73del | ||
| ENST00000463045.2:c.-99del | ||
| ENST00000466613.2:n.85del | ||
| ENST00000485515.5:n.61del | ||
| ENST00000491274.5:c.31del | ||
| NM_003000.2:c.73del , LRG_316t1:c.73del | ||
| NM_003000.3:c.73del |