Linked Data
ClinVar Variation Id:
374926
ClinVar RCV Id:
RCV000415606
dbSNP Id:
rs1057519308
PubMed:
PMID:27866705
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9150740del , CM000673.2:g.9150740del | GRCh38 |
| NC_000011.9:g.9172287del , CM000673.1:g.9172287del | GRCh37 |
| NC_000011.8:g.9128863del | NCBI36 |
| NG_053019.1:g.119597del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328194.8:c.2547del MANE Select | ENSP00000328524.3:p.Lys850SerfsTer11 | |
| ENST00000530780.2:c.*2373del | ENSP00000433925.1:n.*2373del | |
| ENST00000679446.1:n.2468del | ||
| ENST00000679458.1:n.3948del | ||
| ENST00000679460.1:n.2336del | ||
| ENST00000679568.1:c.2547del | ENSP00000505860.1:p.Lys850SerfsTer11 | |
| ENST00000679745.1:n.2336del | ||
| ENST00000679926.1:n.1363del | ||
| ENST00000679999.1:c.2547del | ENSP00000505198.1:p.Lys850SerfsTer11 | |
| ENST00000680252.1:c.2336del | ||
| ENST00000680294.1:c.2547del | ENSP00000506113.1:p.Lys850SerfsTer11 | |
| ENST00000680358.1:n.1846del | ||
| ENST00000680470.1:c.*328del | ENSP00000505975.1:n.*328del | |
| ENST00000680554.1:c.2259del | ENSP00000505621.1:p.Lys754SerfsTer11 | |
| ENST00000680576.1:n.2336del | ||
| ENST00000680599.1:n.2588del | ||
| ENST00000680742.1:c.2547del | ENSP00000505206.1:p.Lys850SerfsTer11 | |
| ENST00000680885.1:n.2468del | ||
| ENST00000681158.1:c.2336del | ||
| ENST00000681203.1:c.2475del | ENSP00000506456.1:p.Lys826SerfsTer11 | |
| ENST00000681425.1:n.2468del | ||
| ENST00000328194.7:c.2547del | ENSP00000328524.3:p.Lys850SerfsTer11 | |
| ENST00000524446.2:c.58del | ||
| ENST00000526707.5:c.2390del | ENSP00000436780.1:p.Gly797GlufsTer3 | |
| ENST00000527700.5:n.2109del | ||
| ENST00000530044.5:c.2547del | ENSP00000435866.1:p.Lys850SerfsTer11 | |
| ENST00000531580.1:n.21del | ||
| NM_001243254.1:c.2547del | NP_001230183.1:p.Lys850SerfsTer11 | |
| NM_015213.3:c.2547del | NP_056028.2:p.Lys850SerfsTer11 | |
| XM_005252832.1:c.2547del | XP_005252889.1:p.Lys850SerfsTer11 | |
| XM_011519952.1:c.2547del | XP_011518254.1:p.Lys850SerfsTer11 | |
| XM_011519953.1:c.645del | XP_011518255.1:p.Lys216SerfsTer11 | |
| XR_242782.2:n.2812del | ||
| XR_930851.1:n.2812del | ||
| XR_930852.1:n.2812del | ||
| XR_930853.1:n.2661del | ||
| NM_001348749.1:c.2475del | NP_001335678.1:p.Lys826SerfsTer11 | |
| NM_001348750.1:c.2259del | NP_001335679.1:p.Lys754SerfsTer11 | |
| NR_145966.2:n.2804del | ||
| NM_015213.4:c.2547del MANE Select | NP_056028.2:p.Lys850SerfsTer11 | |
| NM_001243254.2:c.2547del | NP_001230183.1:p.Lys850SerfsTer11 | |
| NM_001348749.2:c.2475del | NP_001335678.1:p.Lys826SerfsTer11 | |
| NM_001348750.2:c.2259del | NP_001335679.1:p.Lys754SerfsTer11 |