Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104039790_104039795del , CM000672.2:g.104039790_104039795del | GRCh38 |
| NC_000010.10:g.105799548_105799553del , CM000672.1:g.105799548_105799553del | GRCh37 |
| NC_000010.9:g.105789538_105789543del | NCBI36 |
| NG_007069.1:g.51109_51114del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.2789-132_2789-127del MANE Select | NP_000485.3:n.2789-132_2789-127del |
| ENST00000648076.2:c.2789-132_2789-127del MANE Select | ENSP00000497653.1:n.2789-132_2789-127del |
| NM_000494.3:c.2789-132_2789-127del | NP_000485.3:n.2789-132_2789-127del |
| ENST00000353479.9:c.2789-132_2789-127del | ENSP00000340937.5:n.2789-132_2789-127del |
| ENST00000369733.7:c.2761+579_2761+584del | ENSP00000358748.3:n.2761+579_2761+584del |
| ENST00000369733.8:c.2761+579_2761+584del | ENSP00000358748.3:n.2761+579_2761+584del |