Linked Data
ClinVar Variation Id:
555186
ClinVar RCV Id:
RCV000670957
dbSNP Id:
rs1555440545
MyVariant Identifiers:
chr15:g.80159861_80159863del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80159861_80159863del , CM000677.2:g.80159861_80159863del | GRCh38 |
| NC_000015.9:g.80452203_80452205del , CM000677.1:g.80452203_80452205del | GRCh37 |
| NC_000015.8:g.78239258_78239260del | NCBI36 |
| NG_012833.1:g.11863_11865del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.298_300del | ENSP00000507680.1:p.Thr100del | |
| ENST00000682012.1:n.373_375del | ||
| ENST00000683593.1:n.175_177del | ||
| ENST00000684363.1:c.298_300del | ENSP00000507314.1:p.Thr100del | |
| ENST00000684569.1:n.343_345del | ||
| ENST00000561421.6:c.298_300del MANE Select | ENSP00000453347.2:p.Thr100del | |
| ENST00000646551.1:n.1785_1787del | ||
| ENST00000261755.9:c.298_300del | ENSP00000261755.5:p.Thr100del | |
| ENST00000407106.5:c.298_300del | ENSP00000385080.1:p.Thr100del | |
| ENST00000537726.5:n.380_382del | ||
| ENST00000539156.5:c.88_90del | ENSP00000454271.1:p.Thr30del | |
| ENST00000558022.5:c.298_300del | ENSP00000453152.1:p.Thr100del | |
| ENST00000558767.5:n.559_561del | ||
| ENST00000561369.1:n.378_380del | ||
| ENST00000561421.5:c.298_300del | ENSP00000453347.1:p.Thr100del | |
| NM_000137.2:c.298_300del | NP_000128.1:p.Thr100del | |
| XM_024449872.1:c.298_300del | XP_024305640.1:p.Thr100del | |
| NM_000137.4:c.298_300del MANE Select | NP_000128.1:p.Thr100del | |
| NM_001374377.1:c.298_300del | NP_001361306.1:p.Thr100del | |
| NM_001374380.1:c.298_300del | NP_001361309.1:p.Thr100del |