Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919803_89920802del , CM000678.2:g.89919803_89920802del | GRCh38 |
| NC_000016.9:g.89986211_89987210del , CM000678.1:g.89986211_89987210del | GRCh37 |
| NC_000016.8:g.88513712_88514711del | NCBI36 |
| NG_012026.1:g.6925_7924del | |
| NG_027810.1:g.2795_3794del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.545_*590del MANE Select | ENSP00000451605.1:n.[c.545_*590del;Tyr182CysfsTer8] | |
| ENST00000639847.1:c.545_*590del | ENSP00000492011.1:n.[c.545_*590del;Tyr182CysfsTer8] | |
| ENST00000555147.1:c.545_*590del | ENSP00000451605.1:n.[c.545_*590del;Tyr182CysfsTer8] | |
| ENST00000555427.1:c.545_*14del | ||
| ENST00000556922.1:c.545_1098+65del | ||
| NM_002386.3:c.545_*590del | NP_002377.4:n.[c.545_*590del;Tyr182CysfsTer8] | |
| NM_002386.4:c.545_*590del MANE Select | NP_002377.4:n.[c.545_*590del;Tyr182CysfsTer8] |