Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044761_17054019del , CM000663.2:g.17044761_17054019del | GRCh38 |
| NC_000001.10:g.17371256_17380514del , CM000663.1:g.17371256_17380514del | GRCh37 |
| NC_000001.9:g.17243843_17253101del | NCBI36 |
| NG_012340.1:g.5152_14410del , LRG_316:g.5152_14410del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375499.8:c.1_200del | ||
| ENST00000375499.7:c.1_200del | ||
| ENST00000466613.2:n.13_212del | ||
| NM_003000.2:c.1_200del , LRG_316t1:c.1_200del | ||
| NM_003000.3:c.1_200del |