Linked Data
ClinVar Variation Id:
509030
ClinVar RCV Id:
RCV000603916
dbSNP Id:
rs1555366010
gnomAD v4:
14-90403846-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90403847del , CM000676.2:g.90403847del | GRCh38 |
| NC_000014.8:g.90870191del , CM000676.1:g.90870191del | GRCh37 |
| NC_000014.7:g.89939944del | NCBI36 |
| NG_013338.1:g.11865del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356978.9:c.179-15del MANE Select | ENSP00000349467.4:n.179-15del | |
| ENST00000447653.8:c.71-15del | ENSP00000403491.4:n.71-15del | |
| ENST00000659177.1:c.71-15del | ENSP00000499421.1:n.71-15del | |
| ENST00000663135.1:c.71-15del | ENSP00000499498.1:n.71-15del | |
| ENST00000356978.8:c.179-15del | ENSP00000349467.4:n.179-15del | |
| ENST00000447653.7:c.182-15del | ENSP00000403491.3:n.182-15del | |
| ENST00000544280.6:c.71-15del | ENSP00000442853.2:n.71-15del | |
| ENST00000553422.1:c.71-15del | ENSP00000450425.1:n.71-15del | |
| ENST00000553542.5:c.71-15del | ENSP00000450829.1:n.71-15del | |
| ENST00000553630.1:c.179-532del | ENSP00000451646.1:n.179-532del | |
| ENST00000553964.5:n.2309-15del | ||
| ENST00000553995.5:n.378-15del | ||
| ENST00000554296.1:n.216del | ||
| ENST00000555267.1:n.263-15del | ||
| ENST00000557020.5:c.71-15del | ENSP00000451062.1:n.71-15del | |
| ENST00000626705.2:c.166-610del | ENSP00000486402.1:n.166-610del | |
| NM_006888.4:c.179-15del | NP_008819.1:n.179-15del | |
| XM_006720258.2:c.182-15del | XP_006720321.1:n.182-15del | |
| NM_001363669.1:c.71-15del | NP_001350598.1:n.71-15del | |
| NM_001363670.1:c.182-15del | NP_001350599.1:n.182-15del | |
| NM_006888.5:c.179-15del | NP_008819.1:n.179-15del | |
| NM_006888.6:c.179-15del MANE Select | NP_008819.1:n.179-15del | |
| NM_001363669.2:c.71-15del | NP_001350598.1:n.71-15del | |
| NM_001363670.2:c.182-15del | NP_001350599.1:n.182-15del |