Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965904del , CM000670.2:g.37965904del | GRCh38 |
| NC_000008.10:g.37823422del , CM000670.1:g.37823422del | GRCh37 |
| NC_000008.9:g.37942579del | NCBI36 |
| NG_011936.1:g.5763del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.566del MANE Select | NP_000016.1:p.Cys189SerfsTer? |
| ENST00000345060.5:c.566del MANE Select | ENSP00000343782.3:p.Cys189SerfsTer? |
| NM_000025.2:c.566del | NP_000016.1:p.Cys189SerfsTer? |
| ENST00000345060.4:c.566del | ENSP00000343782.3:p.Cys189SerfsTer? |
| ENST00000520341.2:n.694del | |
| ENST00000614635.1:c.566del | ENSP00000480325.1:p.Cys189SerfsTer? |
| ENST00000647937.1:c.50del | ENSP00000497740.1:p.Cys17SerfsTer? |