Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10145108_10153342del , CM000665.2:g.10145108_10153342del | GRCh38 |
| NC_000003.11:g.10186792_10195026del , CM000665.1:g.10186792_10195026del | GRCh37 |
| NC_000003.10:g.10161792_10170026del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696153.1:c.341-1406_*3377del | ||
| ENST00000256474.3:c.341-1406_*3377del | ||
| NM_000551.4:c.341-1406_*3377del | ||
| NM_001354723.2:c.*17+2087_*3573del | ||
| NM_198156.3:c.340+2921_*3377del |