ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013544_25013579del , CM000685.2:g.25013544_25013579del | GRCh38 |
| NC_000023.10:g.25031661_25031696del , CM000685.1:g.25031661_25031696del | GRCh37 |
| NC_000023.9:g.24941582_24941617del | NCBI36 |
| NG_008281.1:g.7373_7408del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.419_454del MANE Select | ENSP00000368332.4:p.Asp140_Ala151del | |
| ENST00000379044.4:c.419_454del | ENSP00000368332.4:p.Asp140_Ala151del | |
| NM_139058.2:c.419_454del | NP_620689.1:p.Asp140_Ala151del | |
| NM_139058.3:c.419_454del MANE Select | NP_620689.1:p.Asp140_Ala151del |