Linked Data
ClinVar Variation Id:
31036
ClinVar RCV Id:
RCV000024030
dbSNP Id:
rs587776899
gnomAD v4:
19-36104604-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36104605dup , CM000681.2:g.36104605dup | GRCh38 |
| NC_000019.9:g.36595507dup , CM000681.1:g.36595507dup | GRCh37 |
| NC_000019.8:g.41287347dup | NCBI36 |
| NG_028101.1:g.54725dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270301.12:c.4226dup | ENSP00000270301.6:p.Ser1410GlufsTer? | |
| ENST00000401500.7:c.4241dup MANE Select | ENSP00000384792.1:p.Ser1415GlufsTer? | |
| ENST00000587391.6:c.*4101dup | ENSP00000465525.1:n.*4101dup | |
| ENST00000679357.1:c.2321dup | ||
| ENST00000679598.1:c.986dup | ||
| ENST00000679682.1:c.4226dup | ENSP00000506226.1:p.Ser1410GlufsTer? | |
| ENST00000679714.1:c.4235dup | ENSP00000506627.1:p.Ser1413GlufsTer? | |
| ENST00000679757.1:c.3890dup | ENSP00000505158.1:p.Ser1298GlufsTer? | |
| ENST00000679858.1:c.*3623dup | ENSP00000505655.1:n.*3623dup | |
| ENST00000680211.1:c.842dup | ENSP00000506102.1:p.Ser282GlufsTer? | |
| ENST00000680280.1:n.1744dup | ||
| ENST00000680349.1:n.2890dup | ||
| ENST00000680403.1:c.4226dup | ENSP00000505677.1:p.Ser1410GlufsTer? | |
| ENST00000680564.1:c.3992dup | ENSP00000505582.1:p.Ser1332GlufsTer? | |
| ENST00000680590.1:c.*2621dup | ENSP00000505350.1:n.*2621dup | |
| ENST00000680597.1:c.974dup | ||
| ENST00000680739.1:c.1256dup | ||
| ENST00000680773.1:n.2742dup | ||
| ENST00000680806.1:c.*3544dup | ENSP00000506418.1:n.*3544dup | |
| ENST00000680997.1:n.2173dup | ||
| ENST00000681608.1:n.2086dup | ||
| ENST00000681625.1:c.*1573dup | ENSP00000505555.1:n.*1573dup | |
| ENST00000681648.1:n.2292dup | ||
| ENST00000270301.11:c.4226dup | ENSP00000270301.6:p.Ser1410GlufsTer? | |
| ENST00000401500.6:c.4241dup | ENSP00000384792.1:p.Ser1415GlufsTer? | |
| ENST00000587391.5:c.*4101dup | ENSP00000465525.1:n.*4101dup | |
| NM_001083961.1:c.4241dup | NP_001077430.1:p.Ser1415GlufsTer? | |
| NM_173636.4:c.4226dup | NP_775907.4:p.Ser1410GlufsTer? | |
| XM_005258809.2:c.4130dup | XP_005258866.1:p.Ser1378GlufsTer? | |
| XM_011526837.1:c.4226dup | XP_011525139.1:p.Ser1410GlufsTer? | |
| XM_011526838.1:c.3992dup | XP_011525140.1:p.Ser1332GlufsTer? | |
| XM_011526839.1:c.3890dup | XP_011525141.1:p.Ser1298GlufsTer? | |
| XM_011526840.1:c.3233dup | XP_011525142.1:p.Ser1079GlufsTer? | |
| XM_011526841.1:c.2819dup | XP_011525143.1:p.Ser941GlufsTer? | |
| XM_011526842.1:c.2672dup | XP_011525144.1:p.Ser892GlufsTer? | |
| XM_011526843.1:c.1988dup | XP_011525145.1:p.Ser664GlufsTer? | |
| XM_011526844.1:c.1988dup | XP_011525146.1:p.Ser664GlufsTer? | |
| XM_011526840.2:c.3233dup | XP_011525142.1:p.Ser1079GlufsTer? | |
| XM_011526841.2:c.2819dup | XP_011525143.1:p.Ser941GlufsTer? | |
| XM_011526844.2:c.1988dup | XP_011525146.1:p.Ser664GlufsTer? | |
| XM_017026665.1:c.4241dup | XP_016882154.1:p.Ser1415GlufsTer? | |
| NM_001083961.2:c.4241dup MANE Select | NP_001077430.1:p.Ser1415GlufsTer? | |
| NM_173636.5:c.4226dup | NP_775907.4:p.Ser1410GlufsTer? |