Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104035529del , CM000672.2:g.104035529del | GRCh38 |
| NC_000010.10:g.105795287del , CM000672.1:g.105795287del | GRCh37 |
| NC_000010.9:g.105785277del | NCBI36 |
| NG_007069.1:g.55355del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.3456del MANE Select | NP_000485.3:p.Pro1154LeufsTer? |
| ENST00000648076.2:c.3456del MANE Select | ENSP00000497653.1:p.Pro1154LeufsTer? |
| NM_000494.3:c.3456del | NP_000485.3:p.Pro1154LeufsTer? |
| ENST00000353479.9:c.3456del | ENSP00000340937.5:p.Pro1154LeufsTer? |
| ENST00000369733.7:c.3321del | ENSP00000358748.3:p.Pro1109LeufsTer? |
| ENST00000369733.8:c.3321del | ENSP00000358748.3:p.Pro1109LeufsTer? |