Linked Data
ClinVar Variation Id:
41322
ClinVar RCV Id:
RCV000034223
dbSNP Id:
rs312262765
MyVariant Identifiers:
chr15:g.44876476_44876479delinsCTCCTCCA (hg19)
chr15:g.44584278_44584281delinsCTCCTCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584278_44584281delinsCTCCTCCA , CM000677.2:g.44584278_44584281delinsCTCCTCCA | GRCh38 |
| NC_000015.9:g.44876476_44876479delinsCTCCTCCA , CM000677.1:g.44876476_44876479delinsCTCCTCCA | GRCh37 |
| NC_000015.8:g.42663768_42663771delinsCTCCTCCA | NCBI36 |
| NG_008885.1:g.84398_84401delinsTGGAGGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5399_5402delinsTGGAGGAG | ENSP00000453246.2:p.Gln1800LeufsTer31 | |
| ENST00000561391.2:n.1627_1630delinsTGGAGGAG | ||
| ENST00000682065.1:c.5255_5258delinsTGGAGGAG | ENSP00000507025.1:p.Gln1752LeufsTer31 | |
| ENST00000682460.1:c.*1656_*1659delinsTGGAGGAG | ENSP00000508334.1:n.*1656_*1659delinsTGGAGGAG | |
| ENST00000682495.1:c.*1891_*1894delinsTGGAGGAG | ENSP00000507166.1:n.*1891_*1894delinsTGGAGGAG | |
| ENST00000682669.1:c.5198_5201delinsTGGAGGAG | ENSP00000507782.1:p.Gln1733LeufsTer31 | |
| ENST00000683186.1:c.*2162_*2165delinsTGGAGGAG | ENSP00000507268.1:n.*2162_*2165delinsTGGAGGAG | |
| ENST00000683496.1:c.5399_5402delinsTGGAGGAG | ENSP00000506968.1:p.Gln1800LeufsTer31 | |
| ENST00000683734.1:c.5399_5402delinsTGGAGGAG | ENSP00000508319.1:p.Gln1800LeufsTer31 | |
| ENST00000683753.1:n.4445_4448delinsTGGAGGAG | ||
| ENST00000684038.1:c.*1819_*1822delinsTGGAGGAG | ENSP00000507141.1:n.*1819_*1822delinsTGGAGGAG | |
| ENST00000684235.1:c.5399_5402delinsTGGAGGAG | ENSP00000508295.1:p.Gln1800LeufsTer31 | |
| ENST00000684676.1:c.5399_5402delinsTGGAGGAG | ENSP00000506948.1:p.Gln1800LeufsTer31 | |
| ENST00000261866.12:c.5399_5402delinsTGGAGGAG MANE Select | ENSP00000261866.7:p.Gln1800LeufsTer31 | |
| ENST00000261866.11:c.5399_5402delinsTGGAGGAG | ENSP00000261866.7:p.Gln1800LeufsTer31 | |
| ENST00000427534.6:c.5399_5402delinsTGGAGGAG | ENSP00000396110.2:p.Gln1800LeufsTer31 | |
| ENST00000535302.6:c.5399_5402delinsTGGAGGAG | ENSP00000445278.2:p.Gln1800LeufsTer31 | |
| ENST00000558319.5:c.5399_5402delinsTGGAGGAG | ENSP00000453599.1:p.Gln1800LeufsTer31 | |
| ENST00000558790.5:n.836_839delinsTGGAGGAG | ||
| ENST00000559511.5:c.247_250delinsTGGAGGAG | ||
| ENST00000559822.1:c.171_174delinsTGGAGGAG | ||
| NM_001160227.1:c.5399_5402delinsTGGAGGAG | NP_001153699.1:p.Gln1800LeufsTer31 | |
| NM_025137.3:c.5399_5402delinsTGGAGGAG | NP_079413.3:p.Gln1800LeufsTer31 | |
| XM_005254695.3:c.5141_5144delinsTGGAGGAG | XP_005254752.1:p.Gln1714LeufsTer31 | |
| XM_006720700.1:c.5255_5258delinsTGGAGGAG | XP_006720763.1:p.Gln1752LeufsTer31 | |
| XM_017022634.1:c.5399_5402delinsTGGAGGAG | XP_016878123.1:p.Gln1800LeufsTer31 | |
| XM_017022636.1:c.2276_2279delinsTGGAGGAG | XP_016878125.1:p.Gln759LeufsTer31 | |
| XR_931917.2:n.5453_5456delinsTGGAGGAG | ||
| NM_025137.4:c.5399_5402delinsTGGAGGAG MANE Select | NP_079413.3:p.Gln1800LeufsTer31 | |
| NM_001160227.2:c.5399_5402delinsTGGAGGAG | NP_001153699.1:p.Gln1800LeufsTer31 |