Linked Data
gnomAD v4:
20-57565525-TGGAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565527_57565531del , CM000682.2:g.57565527_57565531del | GRCh38 |
| NC_000020.10:g.56140583_56140587del , CM000682.1:g.56140583_56140587del | GRCh37 |
| NC_000020.9:g.55573989_55573993del | NCBI36 |
| NG_008205.1:g.9447_9451del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1592_1596del MANE Select | ENSP00000319814.4:p.Gly531GlufsTer? | |
| ENST00000319441.5:c.1592_1596del | ENSP00000319814.4:p.Gly531GlufsTer? | |
| ENST00000467047.1:n.4234_4238del | ||
| NM_002591.3:c.1592_1596del | NP_002582.3:p.Gly531GlufsTer? | |
| XM_011528839.1:c.1196_1200del | XP_011527141.1:p.Gly399GlufsTer? | |
| XM_024451888.1:c.1196_1200del | XP_024307656.1:p.Gly399GlufsTer? | |
| NM_002591.4:c.1592_1596del MANE Select | NP_002582.3:p.Gly531GlufsTer? |