Linked Data
dbSNP Id:
rs1057517109
gnomAD v2:
15-34549982-TG-T
gnomAD v3:
15-34257781-TG-T
gnomAD v4:
15-34257781-TG-T
COSMIC:
COSM5108033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34257787del , CM000677.2:g.34257787del | GRCh38 |
| NC_000015.9:g.34549988del , CM000677.1:g.34549988del | GRCh37 |
| NC_000015.8:g.32337280del | NCBI36 |
| NG_007951.1:g.85283del , LRG_270:g.85283del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.550del MANE Select | ENSP00000346112.3:p.Gln184LysfsTer19 | |
| ENST00000675289.1:n.1332del | ||
| ENST00000676379.1:c.550del | ENSP00000502539.1:p.Gln184LysfsTer19 | |
| ENST00000290209.9:c.397del | ENSP00000290209.5:p.Gln133LysfsTer19 | |
| ENST00000354181.7:c.550del | ENSP00000346112.3:p.Gln184LysfsTer19 | |
| ENST00000397702.6:c.373del | ENSP00000380814.2:p.Gln125LysfsTer19 | |
| ENST00000397707.6:c.505del | ENSP00000380819.2:p.Gln169LysfsTer19 | |
| ENST00000458406.6:c.373del | ENSP00000387725.2:p.Gln125LysfsTer19 | |
| ENST00000558589.5:c.523del | ENSP00000452776.1:p.Gln175LysfsTer19 | |
| ENST00000558667.5:c.550del | ENSP00000453473.1:p.Gln184LysfsTer19 | |
| ENST00000559523.5:c.373del | ENSP00000452904.1:p.Gln125LysfsTer19 | |
| ENST00000559664.5:c.550del | ENSP00000453702.1:p.Gln184LysfsTer19 | |
| ENST00000560164.5:c.126+1031del | ENSP00000452705.1:n.126+1031del | |
| ENST00000560332.1:c.133del | ENSP00000454037.1:p.Gln45LysfsTer19 | |
| ENST00000560611.5:c.550del | ENSP00000454168.1:p.Gln184LysfsTer19 | |
| ENST00000561080.5:c.550del | ENSP00000454069.1:p.Gln184LysfsTer19 | |
| NM_001042494.1:c.373del | NP_001035959.1:p.Gln125LysfsTer19 | |
| NM_001042495.1:c.373del | NP_001035960.1:p.Gln125LysfsTer19 | |
| NM_001042496.1:c.523del | NP_001035961.1:p.Gln175LysfsTer19 | |
| NM_001042497.1:c.505del | NP_001035962.1:p.Gln169LysfsTer19 | |
| NM_005135.2:c.397del , LRG_270t1:c.397del | NP_005126.1:p.Gln133LysfsTer19 | |
| NM_133647.1:c.550del , LRG_270t2:c.550del | NP_598408.1:p.Gln184LysfsTer19 | |
| XM_006720793.2:c.543+1031del | XP_006720856.1:n.543+1031del | |
| XM_011522267.1:c.550del | XP_011520569.1:p.Gln184LysfsTer19 | |
| XM_011522268.1:c.550del | XP_011520570.1:p.Gln184LysfsTer19 | |
| XM_011522269.1:c.550del | XP_011520571.1:p.Gln184LysfsTer19 | |
| XR_429476.2:n.556del | ||
| XR_931960.1:n.556del | ||
| XR_931961.1:n.556del | ||
| NM_001365088.1:c.550del MANE Select | NP_001352017.1:p.Gln184LysfsTer19 | |
| XM_006720793.4:c.543+1031del | XP_006720856.1:n.543+1031del | |
| XM_011522269.3:c.550del | XP_011520571.1:p.Gln184LysfsTer19 | |
| XR_931960.3:n.1800del | ||
| NM_001042494.2:c.373del | NP_001035959.1:p.Gln125LysfsTer19 | |
| NM_001042495.2:c.373del | NP_001035960.1:p.Gln125LysfsTer19 | |
| NM_001042496.2:c.523del | NP_001035961.1:p.Gln175LysfsTer19 | |
| NM_001042497.2:c.505del | NP_001035962.1:p.Gln169LysfsTer19 | |
| NM_133647.2:c.550del | NP_598408.1:p.Gln184LysfsTer19 |