Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288416_44288420del , CM000683.2:g.44288416_44288420del | GRCh38 |
| NC_000021.8:g.45708299_45708303del , CM000683.1:g.45708299_45708303del | GRCh37 |
| NC_000021.7:g.44532727_44532731del | NCBI36 |
| NG_009556.1:g.7537_7541del , LRG_18:g.7537_7541del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.610_614del MANE Select | ENSP00000291582.5:p.Gly204ArgfsTer11 | |
| ENST00000291582.5:c.610_614del | ENSP00000291582.5:p.Gly204ArgfsTer11 | |
| ENST00000527919.5:n.1154_1158del | ||
| ENST00000530812.5:n.1162_1166del | ||
| NM_000383.3:c.610_614del | NP_000374.1:p.Gly204ArgfsTer11 | |
| XM_011529551.1:c.610_614del | XP_011527853.1:p.Gly204ArgfsTer11 | |
| NM_000383.4:c.610_614del MANE Select | NP_000374.1:p.Gly204ArgfsTer11 |