Linked Data
ClinVar Variation Id:
375002
ClinVar RCV Id:
RCV000415727
dbSNP Id:
rs118192231
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63413529_63413533dup , CM000682.2:g.63413529_63413533dup | GRCh38 |
| NC_000020.10:g.62044882_62044886dup , CM000682.1:g.62044882_62044886dup | GRCh37 |
| NC_000020.9:g.61515326_61515330dup | NCBI36 |
| NG_009004.1:g.64108_64112dup | |
| NG_009004.2:g.64108_64112dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706989.1:c.1626_1630dup | ENSP00000516702.1:p.Tyr544CysfsTer5 | |
| ENST00000359125.7:c.1680_1684dup MANE Select | ENSP00000352035.2:p.Tyr562CysfsTer5 | |
| ENST00000637193.1:c.1077_1081dup | ENSP00000490734.1:p.Tyr361CysfsTer5 | |
| ENST00000344462.8:c.1587_1591dup | ENSP00000339611.4:p.Tyr531CysfsTer5 | |
| ENST00000357249.6:c.1248_1252dup | ENSP00000349789.3:p.Tyr418CysfsTer5 | |
| ENST00000359125.6:c.1680_1684dup | ENSP00000352035.2:p.Tyr562CysfsTer5 | |
| ENST00000360480.7:c.1596_1600dup | ENSP00000353668.3:p.Tyr534CysfsTer5 | |
| ENST00000370224.5:c.1596_1600dup | ENSP00000359244.2:p.Tyr534CysfsTer5 | |
| ENST00000625514.2:c.1560_1564dup | ENSP00000486040.1:p.Tyr522CysfsTer5 | |
| ENST00000626839.2:c.1626_1630dup | ENSP00000486706.1:p.Tyr544CysfsTer5 | |
| ENST00000629241.2:c.1596_1600dup | ENSP00000487142.1:p.Tyr534CysfsTer5 | |
| ENST00000629318.1:c.288_292dup | ENSP00000487384.1:p.Tyr98CysfsTer5 | |
| ENST00000629676.2:c.1596_1600dup | ENSP00000486194.1:p.Tyr534CysfsTer5 | |
| NM_004518.4:c.1596_1600dup | NP_004509.2:p.Tyr534CysfsTer5 | |
| NM_172106.1:c.1626_1630dup | NP_742104.1:p.Tyr544CysfsTer5 | |
| NM_172107.2:c.1680_1684dup | NP_742105.1:p.Tyr562CysfsTer5 | |
| NM_172108.3:c.1587_1591dup | NP_742106.1:p.Tyr531CysfsTer5 | |
| XM_006723787.1:c.1680_1684dup | XP_006723850.1:p.Tyr562CysfsTer5 | |
| XM_011528807.1:c.1680_1684dup | XP_011527109.1:p.Tyr562CysfsTer5 | |
| XM_011528808.1:c.1677_1681dup | XP_011527110.1:p.Tyr561CysfsTer5 | |
| XM_011528809.1:c.1650_1654dup | XP_011527111.1:p.Tyr552CysfsTer5 | |
| XM_011528810.1:c.1626_1630dup | XP_011527112.1:p.Tyr544CysfsTer5 | |
| XM_011528811.1:c.1596_1600dup | XP_011527113.1:p.Tyr534CysfsTer5 | |
| XM_011528812.1:c.1677_1681dup | XP_011527114.1:p.Tyr561CysfsTer5 | |
| XM_011528813.1:c.1554_1558dup | XP_011527115.1:p.Tyr520CysfsTer5 | |
| XM_011528814.1:c.1161_1165dup | XP_011527116.1:p.Tyr389CysfsTer5 | |
| XM_011528815.1:c.1680_1684dup | XP_011527117.1:p.Tyr562CysfsTer5 | |
| NM_004518.5:c.1596_1600dup | NP_004509.2:p.Tyr534CysfsTer5 | |
| NM_172106.2:c.1626_1630dup | NP_742104.1:p.Tyr544CysfsTer5 | |
| NM_172107.3:c.1680_1684dup | NP_742105.1:p.Tyr562CysfsTer5 | |
| NM_172108.4:c.1587_1591dup | NP_742106.1:p.Tyr531CysfsTer5 | |
| XM_011528810.2:c.1626_1630dup | XP_011527112.1:p.Tyr544CysfsTer5 | |
| XM_011528811.2:c.1596_1600dup | XP_011527113.1:p.Tyr534CysfsTer5 | |
| XM_017027841.2:c.1623_1627dup | XP_016883330.1:p.Tyr543CysfsTer5 | |
| XM_017027842.2:c.1626_1630dup | XP_016883331.1:p.Tyr544CysfsTer5 | |
| XM_017027843.1:c.1557_1561dup | XP_016883332.1:p.Tyr521CysfsTer5 | |
| XM_017027844.2:c.1623_1627dup | XP_016883333.1:p.Tyr543CysfsTer5 | |
| XM_017027845.1:c.588_592dup | XP_016883334.1:p.Tyr198CysfsTer5 | |
| NM_004518.6:c.1596_1600dup | NP_004509.2:p.Tyr534CysfsTer5 | |
| NM_172106.3:c.1626_1630dup | NP_742104.1:p.Tyr544CysfsTer5 | |
| NM_172107.4:c.1680_1684dup MANE Select | NP_742105.1:p.Tyr562CysfsTer5 | |
| NM_172108.5:c.1587_1591dup | NP_742106.1:p.Tyr531CysfsTer5 | |
| NM_001382235.1:c.1626_1630dup | NP_001369164.1:p.Tyr544CysfsTer5 |