Linked Data
ClinVar Variation Id:
371604
ClinVar RCV Id:
RCV001861398
dbSNP Id:
rs1057517403
gnomAD v4:
17-19649121-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19649122_19649123del , CM000679.2:g.19649122_19649123del | GRCh38 |
| NC_000017.10:g.19552435_19552436del , CM000679.1:g.19552435_19552436del | GRCh37 |
| NC_000017.9:g.19493027_19493028del | NCBI36 |
| NG_007095.2:g.5372_5373del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000176643.11:c.151_152del MANE Select | ENSP00000176643.6:p.Lys51GlufsTer2 | |
| ENST00000395575.7:c.151_152del | ENSP00000378942.3:p.Lys51GlufsTer2 | |
| ENST00000446398.7:n.161_162del | ||
| ENST00000467473.6:n.274_275del | ||
| ENST00000472059.6:c.151_152del | ENSP00000458397.1:p.Lys51GlufsTer2 | |
| ENST00000581518.6:c.151_152del | ENSP00000461916.2:p.Lys51GlufsTer2 | |
| ENST00000582991.6:c.151_152del | ENSP00000464153.1:p.Lys51GlufsTer2 | |
| ENST00000671878.1:c.151_152del | ENSP00000500516.1:p.Lys51GlufsTer2 | |
| ENST00000672357.1:c.151_152del | ENSP00000500092.1:p.Lys51GlufsTer2 | |
| ENST00000672465.1:c.151_152del | ENSP00000500517.1:p.Lys51GlufsTer2 | |
| ENST00000672487.1:c.151_152del | ENSP00000500740.1:p.Lys51GlufsTer2 | |
| ENST00000672564.1:n.372_373del | ||
| ENST00000672567.1:c.42_43del | ||
| ENST00000672709.1:c.5_6del | ||
| ENST00000673136.1:c.151_152del | ENSP00000500380.1:p.Lys51GlufsTer2 | |
| ENST00000176643.10:c.151_152del | ENSP00000176643.6:p.Lys51GlufsTer2 | |
| ENST00000339618.8:c.151_152del | ENSP00000345774.4:p.Lys51GlufsTer2 | |
| ENST00000395575.6:c.151_152del | ENSP00000378942.2:p.Lys51GlufsTer2 | |
| ENST00000446398.6:c.151_152del | ENSP00000395845.2:p.Lys51GlufsTer2 | |
| ENST00000467473.5:n.308_309del | ||
| ENST00000472059.5:c.151_152del | ENSP00000458397.1:p.Lys51GlufsTer2 | |
| ENST00000578614.1:c.151_152del | ENSP00000463128.1:p.Lys51GlyfsTer? | |
| ENST00000579403.1:n.197_198del | ||
| ENST00000579855.5:c.151_152del | ENSP00000463637.1:p.Lys51GlufsTer2 | |
| ENST00000580550.5:c.151_152del | ENSP00000462964.1:p.Lys51GlufsTer2 | |
| ENST00000581518.5:c.151_152del | ENSP00000461916.1:p.Lys51GlufsTer2 | |
| ENST00000582991.5:c.151_152del | ENSP00000464153.1:p.Lys51GlufsTer2 | |
| ENST00000584332.6:c.55_56del | ENSP00000466814.1:p.Lys19GlufsTer2 | |
| ENST00000626500.2:c.151_152del | ENSP00000486283.1:p.Lys51GlufsTer2 | |
| ENST00000630662.2:c.-831_-830del | ENSP00000487353.1:n.-831_-830del | |
| ENST00000631291.2:c.151_152del | ENSP00000486085.1:p.Lys51GlufsTer2 | |
| NM_000382.2:c.151_152del | NP_000373.1:p.Lys51GlufsTer2 | |
| NM_001031806.1:c.151_152del | NP_001026976.1:p.Lys51GlufsTer2 | |
| XM_011523732.1:c.151_152del | XP_011522034.1:p.Lys51GlufsTer2 | |
| XM_011523733.1:c.151_152del | XP_011522035.1:p.Lys51GlufsTer2 | |
| XM_011523733.2:c.151_152del | XP_011522035.1:p.Lys51GlufsTer2 | |
| XM_017024355.1:c.151_152del | XP_016879844.1:p.Lys51GlufsTer2 | |
| XM_017024356.2:c.151_152del | XP_016879845.1:p.Lys51GlufsTer2 | |
| XM_017024357.1:c.151_152del | XP_016879846.1:p.Lys51GlufsTer2 | |
| XM_017024358.2:c.151_152del | XP_016879847.1:p.Lys51GlufsTer2 | |
| XM_024450652.1:c.-538_-537del | XP_024306420.1:n.-538_-537del | |
| NM_000382.3:c.151_152del MANE Select | NP_000373.1:p.Lys51GlufsTer2 | |
| NM_001031806.2:c.151_152del | NP_001026976.1:p.Lys51GlufsTer2 | |
| NM_001369136.1:c.151_152del | NP_001356065.1:p.Lys51GlufsTer2 | |
| NM_001369137.1:c.151_152del | NP_001356066.1:p.Lys51GlufsTer2 | |
| NM_001369138.1:c.151_152del | NP_001356067.1:p.Lys51GlufsTer2 | |
| NM_001369139.1:c.151_152del | NP_001356068.1:p.Lys51GlufsTer2 | |
| NM_001369146.1:c.151_152del | NP_001356075.1:p.Lys51GlufsTer2 | |
| NM_001369148.1:c.-538_-537del | NP_001356077.1:n.-538_-537del | |
| NM_001369137.2:c.151_152del | NP_001356066.1:p.Lys51GlufsTer2 | |
| NM_001369138.2:c.151_152del | NP_001356067.1:p.Lys51GlufsTer2 | |
| NM_001369146.2:c.151_152del | NP_001356075.1:p.Lys51GlufsTer2 | |
| NM_001369148.2:c.-538_-537del | NP_001356077.1:n.-538_-537del |