Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150949050del , CM000669.2:g.150949050del | GRCh38 |
| NC_000007.13:g.150646138del , CM000669.1:g.150646138del | GRCh37 |
| NC_000007.12:g.150277071del | NCBI36 |
| NG_008916.1:g.33879del , LRG_288:g.33879del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3233del | ||
| ENST00000262186.10:c.2400del | ||
| ENST00000330883.9:c.1380del | ||
| ENST00000262186.9:c.2400del | ||
| ENST00000330883.8:c.1380del | ||
| NM_000238.3:c.2400del , LRG_288t1:c.2400del | ||
| NM_172057.2:c.1380del , LRG_288t3:c.1380del | ||
| XM_011516185.1:c.2100del | ||
| XM_011516186.1:c.2400del | ||
| XM_011516185.2:c.2100del | ||
| XM_011516186.3:c.2400del | ||
| XM_017012195.1:c.2250del | ||
| XM_017012196.1:c.2223del | ||
| NM_000238.4:c.2400del | ||
| NM_172057.3:c.1380del |