Linked Data
ClinVar Variation Id:
1642
dbSNP Id:
rs387906257
gnomAD v4:
17-19671818-T-TAACAA
MyVariant Identifiers:
chr17:g.19575133_19575137dupACAAA (hg19)
chr17:g.19575131_19575132insAACAA (hg19)
chr17:g.19671820_19671824dupACAAA (hg38)
chr17:g.19671818_19671819insAACAA (hg38)
PubMed:
PMID:9250352
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19671820_19671824dup , CM000679.2:g.19671820_19671824dup | GRCh38 |
| NC_000017.10:g.19575133_19575137dup , CM000679.1:g.19575133_19575137dup | GRCh37 |
| NC_000017.9:g.19515725_19515729dup | NCBI36 |
| NG_007095.2:g.28070_28074dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000176643.11:c.1307_1311dup MANE Select | ENSP00000176643.6:p.Leu438ThrfsTer21 | |
| ENST00000395575.7:c.980_984dup | ENSP00000378942.3:p.Leu329ThrfsTer21 | |
| ENST00000472059.6:c.*865_*869dup | ENSP00000458397.1:n.*865_*869dup | |
| ENST00000571163.2:c.227-3676_227-3672dup | ENSP00000459977.2:n.227-3676_227-3672dup | |
| ENST00000573947.2:c.107_111dup | ENSP00000462933.2:p.Leu38ThrfsTer21 | |
| ENST00000574078.3:n.636_640dup | ||
| ENST00000581518.6:c.1307_1311dup | ENSP00000461916.2:p.Leu438ThrfsTer21 | |
| ENST00000582991.6:c.*25_*29dup | ENSP00000464153.1:n.*25_*29dup | |
| ENST00000671878.1:c.1307_1311dup | ENSP00000500516.1:p.Leu438ThrfsTer21 | |
| ENST00000672059.1:n.1658_1662dup | ||
| ENST00000672357.1:c.1307_1311dup | ENSP00000500092.1:p.Leu438ThrfsTer21 | |
| ENST00000672465.1:c.1307_1311dup | ENSP00000500517.1:p.Leu438ThrfsTer21 | |
| ENST00000672487.1:c.*487_*491dup | ENSP00000500740.1:n.*487_*491dup | |
| ENST00000672564.1:n.2976_2980dup | ||
| ENST00000672567.1:c.1098+6773_1098+6777dup | ||
| ENST00000672591.1:c.367_371dup | ||
| ENST00000672608.1:n.2296_2300dup | ||
| ENST00000672709.1:c.1161_1165dup | ||
| ENST00000673064.1:n.1807_1811dup | ||
| ENST00000673136.1:c.1208-3676_1208-3672dup | ENSP00000500380.1:n.1208-3676_1208-3672du... | |
| ENST00000673472.1:n.1643_1647dup | ||
| ENST00000673516.1:n.1767_1771dup | ||
| ENST00000176643.10:c.1307_1311dup | ENSP00000176643.6:p.Leu438ThrfsTer21 | |
| ENST00000339618.8:c.1307_1311dup | ENSP00000345774.4:p.Leu438ThrfsTer21 | |
| ENST00000395575.6:c.1307_1311dup | ENSP00000378942.2:p.Leu438ThrfsTer21 | |
| ENST00000472059.5:c.*865_*869dup | ENSP00000458397.1:n.*865_*869dup | |
| ENST00000476965.5:n.1057_1061dup | ||
| ENST00000571163.1:c.227-3738_227-3734dup | ENSP00000459977.1:n.227-3738_227-3734dup | |
| ENST00000573565.1:c.22_26dup | ||
| ENST00000573947.1:c.214_218dup | ENSP00000462933.1:n.214_218dup | |
| ENST00000575384.2:c.53_57dup | ENSP00000461235.2:p.Leu20ThrfsTer21 | |
| ENST00000579855.5:c.1307_1311dup | ENSP00000463637.1:p.Leu438ThrfsTer21 | |
| ENST00000581518.5:c.1307_1311dup | ENSP00000461916.1:p.Leu438ThrfsTer21 | |
| ENST00000582991.5:c.*25_*29dup | ENSP00000464153.1:n.*25_*29dup | |
| ENST00000630662.2:c.227-3738_227-3734dup | ENSP00000487353.1:n.227-3738_227-3734dup | |
| ENST00000631291.2:c.*25_*29dup | ENSP00000486085.1:n.*25_*29dup | |
| NM_000382.2:c.1307_1311dup | NP_000373.1:p.Leu438ThrfsTer21 | |
| NM_001031806.1:c.1307_1311dup | NP_001026976.1:p.Leu438ThrfsTer21 | |
| XM_011523732.1:c.1307_1311dup | XP_011522034.1:p.Leu438ThrfsTer21 | |
| XM_011523733.1:c.1307_1311dup | XP_011522035.1:p.Leu438ThrfsTer21 | |
| XM_011523733.2:c.1307_1311dup | XP_011522035.1:p.Leu438ThrfsTer21 | |
| XM_017024355.1:c.1208-3738_1208-3734dup | XP_016879844.1:n.1208-3738_1208-3734dup | |
| XM_017024356.2:c.1307_1311dup | XP_016879845.1:p.Leu438ThrfsTer21 | |
| XM_017024357.1:c.1307_1311dup | XP_016879846.1:p.Leu438ThrfsTer21 | |
| XM_017024358.2:c.1208-3738_1208-3734dup | XP_016879847.1:n.1208-3738_1208-3734dup | |
| XM_024450651.1:c.728_732dup | XP_024306419.1:p.Leu245ThrfsTer21 | |
| XM_024450652.1:c.728_732dup | XP_024306420.1:p.Leu245ThrfsTer21 | |
| NM_000382.3:c.1307_1311dup MANE Select | NP_000373.1:p.Leu438ThrfsTer21 | |
| NM_001031806.2:c.1307_1311dup | NP_001026976.1:p.Leu438ThrfsTer21 | |
| NM_001369136.1:c.1307_1311dup | NP_001356065.1:p.Leu438ThrfsTer21 | |
| NM_001369137.1:c.1307_1311dup | NP_001356066.1:p.Leu438ThrfsTer21 | |
| NM_001369138.1:c.1307_1311dup | NP_001356067.1:p.Leu438ThrfsTer21 | |
| NM_001369139.1:c.1307_1311dup | NP_001356068.1:p.Leu438ThrfsTer21 | |
| NM_001369146.1:c.1208-3738_1208-3734dup | NP_001356075.1:n.1208-3738_1208-3734dup | |
| NM_001369148.1:c.728_732dup | NP_001356077.1:p.Leu245ThrfsTer21 | |
| NM_001369137.2:c.1307_1311dup | NP_001356066.1:p.Leu438ThrfsTer21 | |
| NM_001369138.2:c.1307_1311dup | NP_001356067.1:p.Leu438ThrfsTer21 | |
| NM_001369146.2:c.1208-3738_1208-3734dup | NP_001356075.1:n.1208-3738_1208-3734dup | |
| NM_001369148.2:c.728_732dup | NP_001356077.1:p.Leu245ThrfsTer21 |