Linked Data
gnomAD v4:
19-2251539-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251540del , CM000681.2:g.2251540del | GRCh38 |
| NC_000019.9:g.2251539del , CM000681.1:g.2251539del | GRCh37 |
| NC_000019.8:g.2202539del | NCBI36 |
| NG_012190.1:g.7427del | |
| NG_032853.1:g.9884del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1266del MANE Select | ENSP00000221496.2:p.Arg423GlufsTer6 | |
| ENST00000221496.4:c.1266del | ENSP00000221496.2:p.Arg423GlufsTer6 | |
| ENST00000589313.2:n.1619del | ||
| NM_000479.3:c.1266del | NP_000470.2:p.Arg423GlufsTer6 | |
| NM_000479.4:c.1266del | NP_000470.2:p.Arg423GlufsTer6 | |
| NM_000479.5:c.1266del MANE Select | NP_000470.3:p.Arg423GlufsTer6 |