ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045779del , CM000679.2:g.43045779del | GRCh38 |
| NC_000017.10:g.41197796del , CM000679.1:g.41197796del | GRCh37 |
| NC_000017.9:g.38451322del | NCBI36 |
| NG_005905.2:g.172206del , LRG_292:g.172206del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5489del | ENSP00000417241.2:p.Pro1830LeufsTer3 | |
| ENST00000470026.6:c.5492del | ENSP00000419274.2:p.Pro1831LeufsTer3 | |
| ENST00000473961.6:c.5366del | ENSP00000420201.2:p.Pro1789LeufsTer3 | |
| ENST00000476777.6:c.5486del | ENSP00000417554.2:p.Pro1829LeufsTer3 | |
| ENST00000477152.6:c.5414del | ENSP00000419988.2:p.Pro1805LeufsTer3 | |
| ENST00000478531.6:c.2180del | ENSP00000420412.2:p.Pro727LeufsTer3 | |
| ENST00000489037.2:c.5414del | ENSP00000420781.2:p.Pro1805LeufsTer3 | |
| ENST00000493919.6:c.2042del | ENSP00000418819.2:p.Pro681LeufsTer3 | |
| ENST00000494123.6:c.5492del | ENSP00000419103.2:p.Pro1831LeufsTer3 | |
| ENST00000497488.2:c.4604del | ENSP00000418986.2:p.Pro1535LeufsTer3 | |
| ENST00000618469.2:c.5492del | ENSP00000478114.2:p.Pro1831LeufsTer3 | |
| ENST00000634433.2:c.5369del | ENSP00000489431.2:p.Pro1790LeufsTer3 | |
| ENST00000644379.2:c.5558del | ENSP00000496570.2:p.Pro1853LeufsTer3 | |
| ENST00000644555.2:c.2042del | ENSP00000494614.2:p.Pro681LeufsTer3 | |
| ENST00000652672.2:c.5351del | ENSP00000498906.2:p.Pro1784LeufsTer3 | |
| ENST00000484087.6:c.2054del | ENSP00000419481.2:p.Pro685LeufsTer3 | |
| ENST00000700081.1:n.1375del | ||
| ENST00000700082.1:n.856del | ||
| ENST00000357654.9:c.5492del MANE Select | ENSP00000350283.3:p.Pro1831LeufsTer3 | |
| ENST00000471181.7:c.5555del | ENSP00000418960.2:p.Pro1852LeufsTer3 | |
| ENST00000644379.1:c.1879del | ||
| ENST00000352993.7:c.2066del | ENSP00000312236.5:p.Pro689LeufsTer3 | |
| ENST00000357654.7:c.5492del | ENSP00000350283.3:p.Pro1831LeufsTer3 | |
| ENST00000461221.5:c.*5275del | ENSP00000418548.1:n.*5275del | |
| ENST00000468300.5:c.*6del | ENSP00000417148.1:n.*6del | |
| ENST00000471181.6:c.5555del | ENSP00000418960.2:p.Pro1852LeufsTer3 | |
| ENST00000491747.6:c.2180del | ENSP00000420705.2:p.Pro727LeufsTer3 | |
| ENST00000493795.5:c.5351del | ENSP00000418775.1:p.Pro1784LeufsTer3 | |
| ENST00000586385.5:c.422del | ENSP00000465818.1:p.Pro141LeufsTer3 | |
| ENST00000591534.5:c.965del | ENSP00000467329.1:p.Pro322LeufsTer3 | |
| ENST00000591849.5:c.191del | ENSP00000465347.1:p.Pro64LeufsTer3 | |
| NM_007294.3:c.5492del , LRG_292t1:c.5492del | NP_009225.1:p.Pro1831LeufsTer3 | |
| NM_007297.3:c.5351del | NP_009228.2:p.Pro1784LeufsTer3 | |
| NM_007298.3:c.2180del | NP_009229.2:p.Pro727LeufsTer3 | |
| NM_007299.3:c.*6del | NP_009230.2:n.*6del | |
| NM_007300.3:c.5555del | NP_009231.2:p.Pro1852LeufsTer3 | |
| NR_027676.1:n.5628del | ||
| NM_007294.4:c.5492del MANE Select | NP_009225.1:p.Pro1831LeufsTer3 | |
| NM_007297.4:c.5351del | NP_009228.2:p.Pro1784LeufsTer3 | |
| NM_007299.4:c.*6del | NP_009230.2:n.*6del | |
| NM_007300.4:c.5555del | NP_009231.2:p.Pro1852LeufsTer3 | |
| NR_027676.2:n.5669del |