Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445367_48445377del , CM000677.2:g.48445367_48445377del | GRCh38 |
| NC_000015.9:g.48737564_48737574del , CM000677.1:g.48737564_48737574del | GRCh37 |
| NC_000015.8:g.46524856_46524866del | NCBI36 |
| NG_008805.2:g.205414_205424del , LRG_778:g.205414_205424del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5917+1_5917+11del | ||
| ENST00000674301.2:c.5917+1_5917+11del | ||
| ENST00000684448.1:n.4591+1_4591+11del | ||
| ENST00000316623.10:c.5917+1_5917+11del | ||
| ENST00000674301.1:c.916+1_916+11del | ||
| ENST00000316623.9:c.5917+1_5917+11del | ||
| ENST00000537463.6:c.*1680+1_*1680+11del | ||
| ENST00000559133.5:c.1224+1_1224+11del | ||
| ENST00000560820.1:n.37+1_37+11del | ||
| NM_000138.4:c.5917+1_5917+11del , LRG_778t1:c.5917+1_5917+11del | ||
| NM_000138.5:c.5917+1_5917+11del |