Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672241_119672261del , CM000672.2:g.119672241_119672261del | GRCh38 |
| NC_000010.10:g.121431753_121431773del , CM000672.1:g.121431753_121431773del | GRCh37 |
| NC_000010.9:g.121421743_121421763del | NCBI36 |
| NG_016125.1:g.25872_25892del , LRG_742:g.25872_25892del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.508-14_514del | ||
| ENST00000369085.7:c.508-14_514del | ||
| ENST00000450186.1:c.334-14_340del | ||
| NM_004281.3:c.508-14_514del , LRG_742t1:c.508-14_514del | ||
| XM_005270287.1:c.508-14_514del | ||
| XM_005270287.2:c.508-14_514del | ||
| NM_004281.4:c.508-14_514del |