Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48683817_48684020del , CM000685.2:g.48683817_48684020del | GRCh38 |
| NC_000023.10:g.48542206_48542409del , CM000685.1:g.48542206_48542409del | GRCh37 |
| NC_000023.9:g.48427150_48427353del | NCBI36 |
| NG_007877.1:g.5021_5224del , LRG_125:g.5021_5224del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698625.1:c.-34-3_132+35del | ||
| ENST00000698635.1:c.-37_132+35del | ||
| ENST00000376701.5:c.-37_132+35del | ||
| ENST00000376701.4:c.-37_132+35del | ||
| ENST00000450772.5:c.-34-3_132+35del | ||
| NM_000377.2:c.-37_132+35del , LRG_125t1:c.-37_132+35del | ||
| XM_011543977.1:c.-37_132+35del | ||
| XM_011543977.2:c.-37_132+35del | ||
| XM_017029786.1:c.-37_132+35del | ||
| NM_000377.3:c.-37_132+35del |