Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113726474_113732131del , CM000675.2:g.113726474_113732131del | GRCh38 |
| NC_000013.10:g.114429447_114435104del , CM000675.1:g.114429447_114435104del | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002929.2:c.1069+3317_1195-753del | |
| NM_002929.3:c.1069+3317_1195-753del | |
| ENST00000335678.6:c.1069+3317_1195-753del | |
| ENST00000335678.7:c.1069+3317_1195-753del | |
| XM_017020684.1:c.364+3317_490-753del |