Linked Data
ClinVar Variation Id:
1972463
ClinVar RCV Id:
RCV002750316
dbSNP Id:
rs1723720158
gnomAD v3:
4-109741002-TC-T
gnomAD v4:
4-109741002-TC-T
COSMIC:
COSM5017792
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109741008del , CM000666.2:g.109741008del | GRCh38 |
| NC_000004.11:g.110662164del , CM000666.1:g.110662164del | GRCh37 |
| NC_000004.10:g.110881613del | NCBI36 |
| NG_007569.1:g.65983del , LRG_48:g.65983del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695844.1:n.1713+1488del | ||
| ENST00000695845.1:n.1712+1488del | ||
| ENST00000695846.1:n.1666del | ||
| ENST00000394634.7:c.1642del MANE Select | ENSP00000378130.2:p.Glu548LysfsTer26 | |
| ENST00000394635.8:c.1666del | ENSP00000378131.3:p.Glu556LysfsTer26 | |
| ENST00000645635.1:c.1534+1488del | ENSP00000493607.1:n.1534+1488del | |
| ENST00000394634.6:c.1642del | ENSP00000378130.2:p.Glu548LysfsTer26 | |
| ENST00000394635.7:c.1666del | ENSP00000378131.3:p.Glu556LysfsTer26 | |
| ENST00000504853.3:n.2059del | ||
| ENST00000512148.5:c.1621del | ENSP00000427438.1:p.Glu541LysfsTer26 | |
| ENST00000618244.4:c.1045-198del | ENSP00000483416.1:n.1045-198del | |
| NM_000204.3:c.1642del , LRG_48t1:c.1642del | NP_000195.2:p.Glu548LysfsTer26 | |
| XM_005262975.1:c.1666del | XP_005263032.1:p.Glu556LysfsTer26 | |
| XM_005262976.1:c.1621del | XP_005263033.1:p.Glu541LysfsTer26 | |
| XM_006714209.1:c.1663del | XP_006714272.1:p.Glu555LysfsTer26 | |
| XM_011531920.1:c.1558+1488del | XP_011530222.1:n.1558+1488del | |
| NM_000204.4:c.1642del | NP_000195.2:p.Glu548LysfsTer26 | |
| NM_001318057.1:c.1666del | NP_001304986.1:p.Glu556LysfsTer26 | |
| NM_001331035.1:c.1621del | NP_001317964.1:p.Glu541LysfsTer26 | |
| XM_011531920.2:c.1558+1488del | XP_011530222.1:n.1558+1488del | |
| XM_017008164.2:c.1534+1488del | XP_016863653.1:n.1534+1488del | |
| XM_017008165.2:c.1513+1488del | XP_016863654.1:n.1513+1488del | |
| XM_017008166.2:c.1534+1488del | XP_016863655.1:n.1534+1488del | |
| NM_001318057.2:c.1666del | NP_001304986.2:p.Glu556LysfsTer26 | |
| NM_001331035.2:c.1621del | NP_001317964.1:p.Glu541LysfsTer26 | |
| NM_001375278.1:c.1558+1488del | NP_001362207.1:n.1558+1488del | |
| NM_001375279.1:c.1534+1488del | NP_001362208.1:n.1534+1488del | |
| NM_001375280.1:c.1513+1488del | NP_001362209.1:n.1513+1488del | |
| NM_001375281.1:c.1534+1488del | NP_001362210.1:n.1534+1488del | |
| NM_001375282.1:c.1513+1488del | NP_001362211.1:n.1513+1488del | |
| NM_001375283.1:c.1585del | NP_001362212.1:p.Glu529LysfsTer26 | |
| NM_001375284.1:c.1033del | NP_001362213.1:p.Glu345LysfsTer26 | |
| NR_164671.1:n.1389del | ||
| NR_164672.1:n.1692del | ||
| NR_164673.1:n.1666del | ||
| NM_000204.5:c.1642del MANE Select | NP_000195.3:p.Glu548LysfsTer26 |