Linked Data
ClinVar Variation Id:
552838
ClinVar RCV Id:
RCV000668177
dbSNP Id:
rs1555621469
MyVariant Identifiers:
chr17:g.42536642_42536647del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536642_42536647del , CM000679.2:g.42536642_42536647del | GRCh38 |
| NC_000017.10:g.40688660_40688665del , CM000679.1:g.40688660_40688665del | GRCh37 |
| NC_000017.9:g.37942186_37942191del | NCBI36 |
| NG_011552.1:g.5710_5715del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.370_375del MANE Select | ENSP00000225927.1:p.Ala124_Thr125del | |
| ENST00000225927.6:c.370_375del | ENSP00000225927.1:p.Ala124_Thr125del | |
| ENST00000586516.5:c.120_125del | ||
| ENST00000591587.1:c.113_118del | ENSP00000467836.1:p.Gly38_His39del | |
| NM_000263.3:c.370_375del | NP_000254.2:p.Ala124_Thr125del | |
| XM_006721920.2:c.-373_-368del | XP_006721983.1:n.-373_-368del | |
| XM_011524840.1:c.-373_-368del | XP_011523142.1:n.-373_-368del | |
| XM_024450771.1:c.370_375del | XP_024306539.1:p.Ala124_Thr125del | |
| NM_000263.4:c.370_375del MANE Select | NP_000254.2:p.Ala124_Thr125del |