Linked Data
ClinVar Variation Id:
189187
ClinVar RCV Id:
RCV000169619
dbSNP Id:
rs786204759
MyVariant Identifiers:
chr17:g.19564542_19564544delinsCC (hg19)
chr17:g.19661229_19661231delinsCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19661229_19661231delinsCC , CM000679.2:g.19661229_19661231delinsCC | GRCh38 |
| NC_000017.10:g.19564542_19564544delinsCC , CM000679.1:g.19564542_19564544delinsCC | GRCh37 |
| NC_000017.9:g.19505134_19505136delinsCC | NCBI36 |
| NG_007095.2:g.17479_17481delinsCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000176643.11:c.901_903delinsCC MANE Select | ENSP00000176643.6:p.Ala301ProfsTer13 | |
| ENST00000395575.7:c.574_576delinsCC | ENSP00000378942.3:p.Ala192ProfsTer13 | |
| ENST00000472059.6:c.*459_*461delinsCC | ENSP00000458397.1:n.*459_*461delinsCC | |
| ENST00000574078.3:n.230_232delinsCC | ||
| ENST00000581518.6:c.901_903delinsCC | ENSP00000461916.2:p.Ala301ProfsTer13 | |
| ENST00000582991.6:c.901_903delinsCC | ENSP00000464153.1:p.Ala301ProfsTer13 | |
| ENST00000671841.1:n.2580_2582delinsCC | ||
| ENST00000671878.1:c.901_903delinsCC | ENSP00000500516.1:p.Ala301ProfsTer13 | |
| ENST00000672059.1:n.1352_1354delinsCC | ||
| ENST00000672357.1:c.901_903delinsCC | ENSP00000500092.1:p.Ala301ProfsTer13 | |
| ENST00000672465.1:c.901_903delinsCC | ENSP00000500517.1:p.Ala301ProfsTer13 | |
| ENST00000672487.1:c.*81_*83delinsCC | ENSP00000500740.1:n.*81_*83delinsCC | |
| ENST00000672564.1:n.1122_1124delinsCC | ||
| ENST00000672567.1:c.792_794delinsCC | ||
| ENST00000672608.1:n.1890_1892delinsCC | ||
| ENST00000672709.1:c.755_757delinsCC | ||
| ENST00000673064.1:n.1401_1403delinsCC | ||
| ENST00000673136.1:c.901_903delinsCC | ENSP00000500380.1:p.Ala301ProfsTer13 | |
| ENST00000673472.1:n.1237_1239delinsCC | ||
| ENST00000673516.1:n.1361_1363delinsCC | ||
| ENST00000176643.10:c.901_903delinsCC | ENSP00000176643.6:p.Ala301ProfsTer13 | |
| ENST00000339618.8:c.901_903delinsCC | ENSP00000345774.4:p.Ala301ProfsTer13 | |
| ENST00000395575.6:c.901_903delinsCC | ENSP00000378942.2:p.Ala301ProfsTer13 | |
| ENST00000472059.5:c.*459_*461delinsCC | ENSP00000458397.1:n.*459_*461delinsCC | |
| ENST00000476965.5:n.651_653delinsCC | ||
| ENST00000571537.1:c.394_396delinsCC | ENSP00000458942.1:p.Ala132ProfsTer13 | |
| ENST00000574078.2:n.230_232delinsCC | ||
| ENST00000578696.1:c.332_334delinsCC | ||
| ENST00000579855.5:c.901_903delinsCC | ENSP00000463637.1:p.Ala301ProfsTer13 | |
| ENST00000581518.5:c.901_903delinsCC | ENSP00000461916.1:p.Ala301ProfsTer13 | |
| ENST00000582991.5:c.901_903delinsCC | ENSP00000464153.1:p.Ala301ProfsTer13 | |
| ENST00000630662.2:c.-81_-79delinsCC | ENSP00000487353.1:n.-81_-79delinsCC | |
| ENST00000631291.2:c.901_903delinsCC | ENSP00000486085.1:p.Ala301ProfsTer13 | |
| NM_000382.2:c.901_903delinsCC | NP_000373.1:p.Ala301ProfsTer13 | |
| NM_001031806.1:c.901_903delinsCC | NP_001026976.1:p.Ala301ProfsTer13 | |
| XM_011523732.1:c.901_903delinsCC | XP_011522034.1:p.Ala301ProfsTer13 | |
| XM_011523733.1:c.901_903delinsCC | XP_011522035.1:p.Ala301ProfsTer13 | |
| XM_011523733.2:c.901_903delinsCC | XP_011522035.1:p.Ala301ProfsTer13 | |
| XM_017024355.1:c.901_903delinsCC | XP_016879844.1:p.Ala301ProfsTer13 | |
| XM_017024356.2:c.901_903delinsCC | XP_016879845.1:p.Ala301ProfsTer13 | |
| XM_017024357.1:c.901_903delinsCC | XP_016879846.1:p.Ala301ProfsTer13 | |
| XM_017024358.2:c.901_903delinsCC | XP_016879847.1:p.Ala301ProfsTer13 | |
| XM_024450651.1:c.322_324delinsCC | XP_024306419.1:p.Ala108ProfsTer13 | |
| XM_024450652.1:c.322_324delinsCC | XP_024306420.1:p.Ala108ProfsTer13 | |
| NM_000382.3:c.901_903delinsCC MANE Select | NP_000373.1:p.Ala301ProfsTer13 | |
| NM_001031806.2:c.901_903delinsCC | NP_001026976.1:p.Ala301ProfsTer13 | |
| NM_001369136.1:c.901_903delinsCC | NP_001356065.1:p.Ala301ProfsTer13 | |
| NM_001369137.1:c.901_903delinsCC | NP_001356066.1:p.Ala301ProfsTer13 | |
| NM_001369138.1:c.901_903delinsCC | NP_001356067.1:p.Ala301ProfsTer13 | |
| NM_001369139.1:c.901_903delinsCC | NP_001356068.1:p.Ala301ProfsTer13 | |
| NM_001369146.1:c.901_903delinsCC | NP_001356075.1:p.Ala301ProfsTer13 | |
| NM_001369148.1:c.322_324delinsCC | NP_001356077.1:p.Ala108ProfsTer13 | |
| NM_001369137.2:c.901_903delinsCC | NP_001356066.1:p.Ala301ProfsTer13 | |
| NM_001369138.2:c.901_903delinsCC | NP_001356067.1:p.Ala301ProfsTer13 | |
| NM_001369146.2:c.901_903delinsCC | NP_001356075.1:p.Ala301ProfsTer13 | |
| NM_001369148.2:c.322_324delinsCC | NP_001356077.1:p.Ala108ProfsTer13 |