Linked Data
dbSNP Id:
rs2048503290
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372244del , CM000679.2:g.44372244del | GRCh38 |
| NC_000017.10:g.42449612del , CM000679.1:g.42449612del | GRCh37 |
| NC_000017.9:g.39805138del | NCBI36 |
| NG_008331.1:g.22264del , LRG_479:g.22264del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.*122del MANE Select | ENSP00000262407.5:n.*122del | |
| ENST00000648408.1:c.2556del | ||
| ENST00000262407.5:c.*122del | ENSP00000262407.5:n.*122del | |
| ENST00000587295.5:c.435del | ||
| ENST00000588098.1:c.219del | ||
| NM_000419.3:c.*122del , LRG_479t1:c.*122del | NP_000410.2:n.*122del | |
| XM_011524749.1:c.*122del | XP_011523051.1:n.*122del | |
| XM_011524750.1:c.*122del | XP_011523052.1:n.*122del | |
| NM_000419.4:c.*122del | NP_000410.2:n.*122del | |
| NM_000419.5:c.*122del MANE Select | NP_000410.2:n.*122del |