Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019329_6019330del , CM000674.2:g.6019329_6019330del | GRCh38 |
| NC_000012.11:g.6128495_6128496del , CM000674.1:g.6128495_6128496del | GRCh37 |
| NC_000012.10:g.5998756_5998757del | NCBI36 |
| NG_009072.1:g.110345_110346del | |
| NG_009072.2:g.110345_110346del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.4092_4093del MANE Select | ENSP00000261405.5:p.Leu1365ValfsTer11 | |
| ENST00000261405.9:c.4092_4093del | ENSP00000261405.5:p.Leu1365ValfsTer11 | |
| ENST00000538635.5:n.421-25392_421-25391del | ||
| NM_000552.3:c.4092_4093del | NP_000543.2:p.Leu1365ValfsTer11 | |
| NM_000552.4:c.4092_4093del | NP_000543.2:p.Leu1365ValfsTer11 | |
| NM_000552.5:c.4092_4093del MANE Select | NP_000543.3:p.Leu1365ValfsTer11 |