ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013539_25013570del , CM000685.2:g.25013539_25013570del | GRCh38 |
| NC_000023.10:g.25031656_25031687del , CM000685.1:g.25031656_25031687del | GRCh37 |
| NC_000023.9:g.24941577_24941608del | NCBI36 |
| NG_008281.1:g.7379_7410del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.425_456del MANE Select | ENSP00000368332.4:p.Ala142GlyfsTer? | |
| ENST00000379044.4:c.425_456del | ENSP00000368332.4:p.Ala142GlyfsTer? | |
| NM_139058.2:c.425_456del | NP_620689.1:p.Ala142GlyfsTer? | |
| NM_139058.3:c.425_456del MANE Select | NP_620689.1:p.Ala142GlyfsTer? |