Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289688_44289689del , CM000683.2:g.44289688_44289689del | GRCh38 |
| NC_000021.8:g.45709571_45709572del , CM000683.1:g.45709571_45709572del | GRCh37 |
| NC_000021.7:g.44533999_44534000del | NCBI36 |
| NG_009556.1:g.8809_8810del , LRG_18:g.8809_8810del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.684_685del MANE Select | ENSP00000291582.5:p.Glu229ValfsTer? | |
| ENST00000291582.5:c.684_685del | ENSP00000291582.5:p.Glu229ValfsTer? | |
| ENST00000527919.5:n.1417_1418del | ||
| ENST00000530812.5:n.2434_2435del | ||
| NM_000383.3:c.684_685del | NP_000374.1:p.Glu229ValfsTer? | |
| XM_011529551.1:c.684_685del | XP_011527853.1:p.Glu229ValfsTer? | |
| NM_000383.4:c.684_685del MANE Select | NP_000374.1:p.Glu229ValfsTer? |