Linked Data
dbSNP Id:
rs1260567170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562813_57562824del , CM000682.2:g.57562813_57562824del | GRCh38 |
| NC_000020.10:g.56137869_56137880del , CM000682.1:g.56137869_56137880del | GRCh37 |
| NC_000020.9:g.55571275_55571286del | NCBI36 |
| NG_008205.1:g.6733_6744del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.524_535del MANE Select | ENSP00000319814.4:p.Arg175_Thr178del | |
| ENST00000319441.5:c.524_535del | ENSP00000319814.4:p.Arg175_Thr178del | |
| ENST00000467047.1:n.1734_1745del | ||
| ENST00000498194.1:n.466_477del | ||
| NM_002591.3:c.524_535del | NP_002582.3:p.Arg175_Thr178del | |
| XM_011528839.1:c.128_139del | XP_011527141.1:p.Arg43_Thr46del | |
| XM_024451888.1:c.128_139del | XP_024307656.1:p.Arg43_Thr46del | |
| NM_002591.4:c.524_535del MANE Select | NP_002582.3:p.Arg175_Thr178del |