Linked Data
ClinVar Variation Id:
284807
dbSNP Id:
rs776059672
ExAC:
15:42681204 GT / G
gnomAD v2:
15-42681204-GT-G
gnomAD v4:
15-42389006-GT-G
MyVariant Identifiers:
chr15:g.42681210del (hg19)
chr15:g.42681205del (hg19)
chr15:g.42389012del (hg38)
chr15:g.42389007del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42389012del , CM000677.2:g.42389012del | GRCh38 |
| NC_000015.9:g.42681210del , CM000677.1:g.42681210del | GRCh37 |
| NC_000015.8:g.40468502del | NCBI36 |
| NG_008660.1:g.45910del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.717del | ENSP00000183936.4:p.Phe239LeufsTer14 | |
| ENST00000357568.8:c.717del | ENSP00000350181.3:p.Phe239LeufsTer14 | |
| ENST00000397163.8:c.717del MANE Select | ENSP00000380349.3:p.Phe239LeufsTer14 | |
| ENST00000466369.5:n.1226del | ||
| ENST00000483208.5:n.948del | ||
| ENST00000495723.1:n.948del | ||
| ENST00000549793.5:n.948del | ||
| ENST00000638141.2:n.732del | ||
| ENST00000673705.1:c.70+4460del | ENSP00000501021.1:n.70+4460del | |
| ENST00000318023.11:c.717del | ENSP00000326281.8:p.Phe239LeufsTer14 | |
| ENST00000349748.7:c.717del | ENSP00000183936.4:p.Phe239LeufsTer14 | |
| ENST00000357568.7:c.717del | ENSP00000350181.3:p.Phe239LeufsTer14 | |
| ENST00000397163.7:c.717del | ENSP00000380349.3:p.Phe239LeufsTer14 | |
| NM_000070.2:c.717del | NP_000061.1:p.Phe239LeufsTer14 | |
| NM_024344.1:c.717del | NP_077320.1:p.Phe239LeufsTer14 | |
| NM_173087.1:c.717del | NP_775110.1:p.Phe239LeufsTer14 | |
| NM_000070.3:c.717del MANE Select | NP_000061.1:p.Phe239LeufsTer14 | |
| NM_024344.2:c.717del | NP_077320.1:p.Phe239LeufsTer14 | |
| NM_173087.2:c.717del | NP_775110.1:p.Phe239LeufsTer14 |