Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48537700del , CM000677.2:g.48537700del | GRCh38 |
| NC_000015.9:g.48829897del , CM000677.1:g.48829897del | GRCh37 |
| NC_000015.8:g.46617189del | NCBI36 |
| NG_008805.2:g.113090del , LRG_778:g.113090del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.648del | ENSP00000453958.2:p.Trp217GlyfsTer? | |
| ENST00000674301.2:c.648del | ENSP00000501333.2:p.Trp217GlyfsTer? | |
| ENST00000316623.10:c.648del MANE Select | ENSP00000325527.5:p.Trp217GlyfsTer? | |
| ENST00000316623.9:c.648del | ENSP00000325527.5:p.Trp217GlyfsTer? | |
| ENST00000537463.6:c.636+12del | ENSP00000440294.2:n.636+12del | |
| NM_000138.4:c.648del , LRG_778t1:c.648del | NP_000129.3:p.Trp217GlyfsTer? | |
| NM_000138.5:c.648del MANE Select | NP_000129.3:p.Trp217GlyfsTer? |