Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13014587_13016458del , CM000672.2:g.13014587_13016458del | GRCh38 |
| NC_000010.10:g.13056587_13058458del , CM000672.1:g.13056587_13058458del | GRCh37 |
| NC_000010.9:g.13096593_13098464del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001282658.1:c.-1-17946_-1-16075del | NP_001269587.1:n.-1-17946_-1-16075del |
| NM_001282658.2:c.-1-17946_-1-16075del | NP_001269587.1:n.-1-17946_-1-16075del |
| ENST00000378839.1:c.-1-17946_-1-16075del | ENSP00000368116.1:n.-1-17946_-1-16075del |