Linked Data
ClinVar Variation Id:
378050
ClinVar RCV Id:
RCV003558376
dbSNP Id:
rs1057520303
MyVariant Identifiers:
chr15:g.48577315_48577316del (hg19)
chr15:g.48577310_48577311del (hg19)
chr15:g.48285118_48285119del (hg38)
chr15:g.48285113_48285114del (hg38)
PubMed:
PMID:28095294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48285118_48285119del , CM000677.2:g.48285118_48285119del | GRCh38 |
| NC_000015.9:g.48577315_48577316del , CM000677.1:g.48577315_48577316del | GRCh37 |
| NC_000015.8:g.46364607_46364608del | NCBI36 |
| NG_021301.1:g.83818_83819del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686073.1:c.2498_2499del | ENSP00000508901.1:p.Arg833IlefsTer15 | |
| ENST00000380993.8:c.2498_2499del MANE Select | ENSP00000370381.3:p.Arg833IlefsTer15 | |
| ENST00000646012.1:c.2636_2637del | ENSP00000495813.1:p.Arg879IlefsTer15 | |
| ENST00000647232.1:c.2498_2499del | ENSP00000493875.1:p.Arg833IlefsTer15 | |
| ENST00000647546.1:c.2498_2499del | ENSP00000495332.1:p.Arg833IlefsTer15 | |
| ENST00000380993.7:c.2498_2499del | ENSP00000370381.3:p.Arg833IlefsTer15 | |
| ENST00000396577.7:c.2498_2499del | ENSP00000379822.3:p.Arg833IlefsTer15 | |
| ENST00000558252.5:n.6621_6622del | ||
| ENST00000558405.5:c.2498_2499del | ENSP00000453409.1:p.Arg833IlefsTer15 | |
| ENST00000559641.5:c.1937_1938del | ENSP00000453230.1:p.Arg646IlefsTer? | |
| ENST00000560692.5:n.6637_6638del | ||
| NM_000338.2:c.2498_2499del | NP_000329.2:p.Arg833IlefsTer15 | |
| NM_001184832.1:c.2498_2499del | NP_001171761.1:p.Arg833IlefsTer15 | |
| XM_005254605.1:c.2594_2595del | XP_005254662.1:p.Arg865IlefsTer15 | |
| XM_005254606.1:c.2498_2499del | XP_005254663.1:p.Arg833IlefsTer15 | |
| XM_006720656.1:c.2594_2595del | XP_006720719.1:p.Arg865IlefsTer15 | |
| XR_931896.1:n.2810_2811del | ||
| XM_005254606.2:c.2498_2499del | XP_005254663.1:p.Arg833IlefsTer15 | |
| XR_001751523.1:n.1001+4664_1001+4665del | ||
| NM_000338.3:c.2498_2499del MANE Select | NP_000329.2:p.Arg833IlefsTer15 | |
| NM_001184832.2:c.2498_2499del | NP_001171761.1:p.Arg833IlefsTer15 | |
| NM_001384136.1:c.2498_2499del | NP_001371065.1:p.Arg833IlefsTer15 |