ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013538_25013619del , CM000685.2:g.25013538_25013619del | GRCh38 |
| NC_000023.10:g.25031655_25031736del , CM000685.1:g.25031655_25031736del | GRCh37 |
| NC_000023.9:g.24941576_24941657del | NCBI36 |
| NG_008281.1:g.7332_7413del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.378_459del MANE Select | ENSP00000368332.4:p.Pro127ArgfsTer14 | |
| ENST00000379044.4:c.378_459del | ENSP00000368332.4:p.Pro127ArgfsTer14 | |
| NM_139058.2:c.378_459del | NP_620689.1:p.Pro127ArgfsTer14 | |
| NM_139058.3:c.378_459del MANE Select | NP_620689.1:p.Pro127ArgfsTer14 |