Linked Data
dbSNP Id:
rs1477567737
gnomAD v2:
20-56137941-CT-C
gnomAD v3:
20-57562885-CT-C
gnomAD v4:
20-57562885-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562886del , CM000682.2:g.57562886del | GRCh38 |
| NC_000020.10:g.56137942del , CM000682.1:g.56137942del | GRCh37 |
| NC_000020.9:g.55571348del | NCBI36 |
| NG_008205.1:g.6806del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.597del MANE Select | ENSP00000319814.4:p.Leu200CysfsTer17 | |
| ENST00000319441.5:c.597del | ENSP00000319814.4:p.Leu200CysfsTer17 | |
| ENST00000467047.1:n.1807del | ||
| ENST00000470051.1:n.53del | ||
| ENST00000498194.1:n.539del | ||
| NM_002591.3:c.597del | NP_002582.3:p.Leu200CysfsTer17 | |
| XM_011528839.1:c.201del | XP_011527141.1:p.Leu68CysfsTer17 | |
| XM_024451888.1:c.201del | XP_024307656.1:p.Leu68CysfsTer17 | |
| NM_002591.4:c.597del MANE Select | NP_002582.3:p.Leu200CysfsTer17 |