Linked Data
MyVariant Identifiers:
chr21:g.45712189_45712190del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292306_44292307del , CM000683.2:g.44292306_44292307del | GRCh38 |
| NC_000021.8:g.45712189_45712190del , CM000683.1:g.45712189_45712190del | GRCh37 |
| NC_000021.7:g.44536617_44536618del | NCBI36 |
| NG_009556.1:g.11427_11428del , LRG_18:g.11427_11428del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291582.6:c.1000_1001del MANE Select | ENSP00000291582.5:p.Thr334LeufsTer? | |
| ENST00000291582.5:c.1000_1001del | ENSP00000291582.5:p.Thr334LeufsTer? | |
| ENST00000337909.5:n.461_462del | ||
| ENST00000397994.8:n.461_462del | ||
| ENST00000527919.5:n.1730_1731del | ||
| ENST00000530812.5:n.2747_2748del | ||
| NM_000383.3:c.1000_1001del | NP_000374.1:p.Thr334LeufsTer? | |
| XM_011529551.1:c.997_998del | XP_011527853.1:p.Thr333LeufsTer? | |
| NM_000383.4:c.1000_1001del MANE Select | NP_000374.1:p.Thr334LeufsTer? |