Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115454_10115455del , CM000681.2:g.10115454_10115455del | GRCh38 |
| NC_000019.9:g.10226130_10226131del , CM000681.1:g.10226130_10226131del | GRCh37 |
| NC_000019.8:g.10087130_10087131del | NCBI36 |
| NG_047007.1:g.8934_8935del | |
| NG_051197.1:g.9472_9473del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.947+26_947+27del MANE Select | ENSP00000253108.3:n.947+26_947+27del | |
| ENST00000253108.8:c.947+26_947+27del | ENSP00000253108.3:n.947+26_947+27del | |
| ENST00000590158.1:n.966+26_966+27del | ||
| ENST00000593054.5:c.341+26_341+27del | ENSP00000467187.1:n.341+26_341+27del | |
| NM_003755.3:c.947+26_947+27del | NP_003746.2:n.947+26_947+27del | |
| NM_003755.4:c.947+26_947+27del | NP_003746.2:n.947+26_947+27del | |
| NM_003755.5:c.947+26_947+27del MANE Select | NP_003746.2:n.947+26_947+27del |