Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44294480_44294483del , CM000683.2:g.44294480_44294483del | GRCh38 |
| NC_000021.8:g.45714363_45714366del , CM000683.1:g.45714363_45714366del | GRCh37 |
| NC_000021.7:g.44538791_44538794del | NCBI36 |
| NG_009556.1:g.13601_13604del , LRG_18:g.13601_13604del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.1480_1483del MANE Select | ENSP00000291582.5:p.Arg494TrpfsTer26 | |
| ENST00000291582.5:c.1480_1483del | ENSP00000291582.5:p.Arg494TrpfsTer26 | |
| ENST00000337909.5:n.941_944del | ||
| ENST00000397994.8:n.859_862del | ||
| ENST00000527919.5:n.2239_2242del | ||
| ENST00000530812.5:n.3227_3230del | ||
| NM_000383.3:c.1480_1483del | NP_000374.1:p.Arg494TrpfsTer26 | |
| XM_011529551.1:c.1477_1480del | XP_011527853.1:p.Arg493TrpfsTer26 | |
| NM_000383.4:c.1480_1483del MANE Select | NP_000374.1:p.Arg494TrpfsTer26 |