Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024074_17024078del , CM000663.2:g.17024074_17024078del | GRCh38 |
| NC_000001.10:g.17350569_17350573del , CM000663.1:g.17350569_17350573del | GRCh37 |
| NC_000001.9:g.17223156_17223160del | NCBI36 |
| NG_012340.1:g.35095_35099del , LRG_316:g.35095_35099del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.370-2_372del | ||
| ENST00000491274.6:c.499-2_501del | ||
| ENST00000375499.8:c.541-2_543del | ||
| ENST00000375499.7:c.541-2_543del | ||
| ENST00000485515.5:n.475-2_477del | ||
| ENST00000491274.5:c.499-2_501del | ||
| NM_003000.2:c.541-2_543del , LRG_316t1:c.541-2_543del | ||
| NM_003000.3:c.541-2_543del |