Linked Data
gnomAD v4:
8-19951854-ACTGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951858_19951861del , CM000670.2:g.19951858_19951861del | GRCh38 |
| NC_000008.10:g.19809369_19809372del , CM000670.1:g.19809369_19809372del | GRCh37 |
| NC_000008.9:g.19853649_19853652del | NCBI36 |
| NG_008855.1:g.17788_17791del | |
| NG_008855.2:g.55142_55145del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.339_342del MANE Select | ENSP00000497642.1:p.Trp113CysfsTer? | |
| ENST00000311322.8:c.339_342del | ENSP00000309757.6:p.Trp113CysfsTer? | |
| ENST00000520959.5:c.111_114del | ENSP00000428496.1:p.Trp37CysfsTer? | |
| ENST00000524029.5:c.339_342del | ENSP00000428237.1:p.Trp113CysfsTer? | |
| NM_000237.2:c.339_342del | NP_000228.1:p.Trp113CysfsTer? | |
| NM_000237.3:c.339_342del MANE Select | NP_000228.1:p.Trp113CysfsTer? |