Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10145132_10153366del , CM000665.2:g.10145132_10153366del | GRCh38 |
| NC_000003.11:g.10186816_10195050del , CM000665.1:g.10186816_10195050del | GRCh37 |
| NC_000003.10:g.10161816_10170050del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696153.1:c.341-1382_*3401del | ||
| ENST00000256474.3:c.341-1382_*3401del | ||
| NM_000551.4:c.341-1382_*3401del | ||
| NM_001354723.2:c.*17+2111_*3597del | ||
| NM_198156.3:c.340+2945_*3401del |