Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707505_112707882del , CM000667.2:g.112707505_112707882del | GRCh38 |
| NC_000005.9:g.112043202_112043579del , CM000667.1:g.112043202_112043579del | GRCh37 |
| NC_000005.8:g.112071101_112071478del | NCBI36 |
| NG_008481.4:g.19985_20362del , LRG_130:g.19985_20362del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509732.5:c.-163_-19+233del | ||
| NM_001127511.2:c.-213_165del | ||
| NM_001354895.1:c.-396_-19del | NP_001341824.1:n.-396_-19del | |
| NM_001354897.1:c.-213_165del | ||
| NM_001354902.1:c.-213_165del | ||
| NM_001127511.3:c.-213_165del | ||
| NM_001354895.2:c.-396_-19del | NP_001341824.1:n.-396_-19del | |
| NM_001354897.2:c.-213_165del | ||
| NM_001354902.2:c.-213_165del |