Linked Data
dbSNP Id:
rs34309090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022613del , CM000663.2:g.17022613del | GRCh38 |
| NC_000001.10:g.17349108del , CM000663.1:g.17349108del | GRCh37 |
| NC_000001.9:g.17221695del | NCBI36 |
| NG_012340.1:g.36559del , LRG_316:g.36559del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.590del | ENSP00000481376.2:p.Pro197LeufsTer4 | |
| ENST00000491274.6:c.719del | ENSP00000480482.2:p.Pro240LeufsTer4 | |
| ENST00000375499.8:c.761del MANE Select | ENSP00000364649.3:p.Pro254LeufsTer4 | |
| ENST00000375499.7:c.761del | ENSP00000364649.3:p.Pro254LeufsTer4 | |
| ENST00000475049.5:n.186del | ||
| ENST00000485092.5:n.425del | ||
| ENST00000485515.5:n.695del | ||
| NM_003000.2:c.761del , LRG_316t1:c.761del | NP_002991.2:p.Pro254LeufsTer4 | |
| NM_003000.3:c.761del MANE Select | NP_002991.2:p.Pro254LeufsTer4 |