Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688054del , CM000685.2:g.48688054del | GRCh38 |
| NC_000023.10:g.48546443del , CM000685.1:g.48546443del | GRCh37 |
| NC_000023.9:g.48431387del | NCBI36 |
| NG_007877.1:g.9258del , LRG_125:g.9258del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483750.6:n.768del | ||
| ENST00000490627.2:n.172del | ||
| ENST00000698625.1:c.735del | ||
| ENST00000698626.1:c.735del | ||
| ENST00000698635.1:c.735del | ||
| ENST00000376701.5:c.735del | ||
| ENST00000376701.4:c.735del | ||
| ENST00000465982.5:n.635del | ||
| ENST00000483750.5:n.761del | ||
| ENST00000490627.1:n.155del | ||
| NM_000377.2:c.735del , LRG_125t1:c.735del | ||
| XM_011543977.1:c.735del | ||
| XM_011543977.2:c.735del | ||
| XM_017029786.1:c.735del | ||
| NM_000377.3:c.735del |