Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899379_4899381del , CM000679.2:g.4899379_4899381del | GRCh38 |
| NC_000017.10:g.4802674_4802676del , CM000679.1:g.4802674_4802676del | GRCh37 |
| NC_000017.9:g.4743453_4743455del | NCBI36 |
| NG_008029.2:g.8697_8699del | |
| NG_028005.1:g.71040_71042del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1038_1040del MANE Select | ENSP00000497829.1:p.Leu347del | |
| ENST00000649830.1:c.105_107del | ENSP00000496907.1:p.Leu36del | |
| ENST00000652550.1:n.768_770del | ||
| ENST00000293780.4:c.1038_1040del | ENSP00000293780.4:p.Leu347del | |
| ENST00000572438.1:n.724_726del | ||
| NM_000080.3:c.1038_1040del | NP_000071.1:p.Leu347del | |
| NM_000080.4:c.1038_1040del MANE Select | NP_000071.1:p.Leu347del | |
| XM_017024115.1:c.1002_1004del | XP_016879604.1:p.Leu335del | |
| XR_001752421.1:n.1768_1770del |