Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154956957_154956965del , CM000685.2:g.154956957_154956965del | GRCh38 |
| NC_000023.10:g.154185232_154185240del , CM000685.1:g.154185232_154185240del | GRCh37 |
| NC_000023.9:g.153838426_153838434del | NCBI36 |
| NG_011403.1:g.70760_70768del | |
| NG_011403.2:g.70760_70768del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1745_1752+1del | ||
| ENST00000647125.1:c.*1621_*1628+1del | ||
| ENST00000360256.8:c.1745_1752+1del | ||
| NM_000132.3:c.1745_1752+1del | ||
| XM_011531126.1:c.1640_1647+1del | ||
| NM_000132.4:c.1745_1752+1del |