Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176889del , CM000674.2:g.21176889del | GRCh38 |
| NC_000012.11:g.21329823del , CM000674.1:g.21329823del | GRCh37 |
| NC_000012.10:g.21221090del | NCBI36 |
| NG_011745.1:g.50696del , LRG_1022:g.50696del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.473del MANE Select | ENSP00000256958.2:p.Val158GlyfsTer6 | |
| ENST00000256958.2:c.473del | ENSP00000256958.2:p.Val158GlyfsTer6 | |
| ENST00000543498.5:c.539del | ||
| NM_006446.4:c.473del , LRG_1022t1:c.473del | NP_006437.3:p.Val158GlyfsTer6 | |
| NM_006446.5:c.473del MANE Select | NP_006437.3:p.Val158GlyfsTer6 |