Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022606_17022619del , CM000663.2:g.17022606_17022619del | GRCh38 |
| NC_000001.10:g.17349101_17349114del , CM000663.1:g.17349101_17349114del | GRCh37 |
| NC_000001.9:g.17221688_17221701del | NCBI36 |
| NG_012340.1:g.36554_36567del , LRG_316:g.36554_36567del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.585_594+4del | ||
| ENST00000491274.6:c.714_723+4del | ||
| ENST00000375499.8:c.756_765+4del | ||
| ENST00000375499.7:c.756_765+4del | ||
| ENST00000475049.5:n.181_190+4del | ||
| ENST00000485092.5:n.420_429+4del | ||
| NM_003000.2:c.756_765+4del , LRG_316t1:c.756_765+4del | ||
| NM_003000.3:c.756_765+4del |