Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849337del , CM000681.2:g.35849337del | GRCh38 |
| NC_000019.9:g.36340239del , CM000681.1:g.36340239del | GRCh37 |
| NC_000019.8:g.41032079del | NCBI36 |
| NG_013356.2:g.24951del , LRG_693:g.24951del | |
| NG_051206.1:g.2703del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.739del MANE Select | ENSP00000368190.4:p.Trp247GlyfsTer27 | |
| ENST00000353632.6:c.739del | ENSP00000343634.5:p.Trp247GlyfsTer27 | |
| ENST00000378910.9:c.739del | ENSP00000368190.4:p.Trp247GlyfsTer27 | |
| NM_004646.3:c.739del , LRG_693t1:c.739del | NP_004637.1:p.Trp247GlyfsTer27 | |
| NM_004646.4:c.739del MANE Select | NP_004637.1:p.Trp247GlyfsTer27 |