Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78306488_78306501del , CM000671.2:g.78306488_78306501del | GRCh38 |
| NC_000009.11:g.80921404_80921417del , CM000671.1:g.80921404_80921417del | GRCh37 |
| NC_000009.10:g.80111224_80111237del | NCBI36 |
| NG_012165.1:g.14346_14359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.570+2_570+15del | ||
| ENST00000347159.6:c.570+2_570+15del | ||
| ENST00000376588.3:c.570+2_570+15del | ||
| NM_021154.4:c.570+2_570+15del | ||
| NM_058179.3:c.570+2_570+15del | ||
| NM_058179.4:c.570+2_570+15del | ||
| NM_021154.5:c.570+2_570+15del |