Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013523_25013572del , CM000685.2:g.25013523_25013572del | GRCh38 |
| NC_000023.10:g.25031640_25031689del , CM000685.1:g.25031640_25031689del | GRCh37 |
| NC_000023.9:g.24941561_24941610del | NCBI36 |
| NG_008281.1:g.7380_7429del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.426_475del MANE Select | ENSP00000368332.4:p.Gly143GlnfsTer? | |
| ENST00000379044.4:c.426_475del | ENSP00000368332.4:p.Gly143GlnfsTer? | |
| NM_139058.2:c.426_475del | NP_620689.1:p.Gly143GlnfsTer? | |
| NM_139058.3:c.426_475del MANE Select | NP_620689.1:p.Gly143GlnfsTer? |