Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601885_110601965del , CM000672.2:g.110601885_110601965del | GRCh38 |
| NC_000010.10:g.112361643_112361723del , CM000672.1:g.112361643_112361723del | GRCh37 |
| NC_000010.9:g.112351633_112351713del | NCBI36 |
| NG_012217.1:g.39195_39275del , LRG_774:g.39195_39275del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.3:c.2892+1_2893-1del , LRG_774t1:c.2892+1_2893-1del | |
| NM_005445.4:c.2892+1_2893-1del | |
| ENST00000361804.4:c.2892+1_2893-1del | |
| ENST00000361804.5:c.2892+1_2893-1del | |
| ENST00000684988.1:n.5125+1_5126-1del | |
| ENST00000685743.1:n.2600+1_2601-1del | |
| ENST00000686057.1:n.1243+1_1244-1del | |
| ENST00000689321.1:n.1855+1_1856-1del | |
| ENST00000689986.1:n.681+1_682-1del |