Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48434596_48434715del , CM000677.2:g.48434596_48434715del | GRCh38 |
| NC_000015.9:g.48726793_48726912del , CM000677.1:g.48726793_48726912del | GRCh37 |
| NC_000015.8:g.46514085_46514204del | NCBI36 |
| NG_008805.2:g.216076_216195del , LRG_778:g.216076_216195del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6497_6616del | ||
| ENST00000674301.2:c.6497_6616del | ||
| ENST00000682170.1:n.106_225del | ||
| ENST00000316623.10:c.6497_6616del | ||
| ENST00000674301.1:c.1496_1615del | ||
| ENST00000316623.9:c.6497_6616del | ||
| ENST00000537463.6:c.*2260_*2379del | ||
| ENST00000559133.5:c.1804_1923del | ||
| NM_000138.4:c.6497_6616del , LRG_778t1:c.6497_6616del | ||
| NM_000138.5:c.6497_6616del |