Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173591del , CM000678.2:g.173591del | GRCh38 |
| NC_000016.9:g.223590del , CM000678.1:g.223590del | GRCh37 |
| NC_000016.8:g.163590del | NCBI36 |
| NG_000006.1:g.34454del | |
| NG_059186.1:g.1941del | |
| NG_059271.1:g.5745del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.420del MANE Select | ENSP00000251595.6:p.Lys140AsnfsTer9 | |
| ENST00000251595.10:c.420del | ENSP00000251595.6:p.Lys140AsnfsTer9 | |
| ENST00000397806.1:c.324del | ENSP00000380908.1:p.Lys108AsnfsTer9 | |
| ENST00000482565.1:n.556del | ||
| NM_000517.4:c.420del | NP_000508.1:p.Lys140AsnfsTer9 | |
| NM_000517.6:c.420del MANE Select | NP_000508.1:p.Lys140AsnfsTer9 |