Linked Data
ClinVar Variation Id:
1429085
ClinVar RCV Id:
RCV001950008
dbSNP Id:
rs781424514
ExAC:
15:89870178 CCCT / C
gnomAD v2:
15-89870178-CCCT-C
gnomAD v3:
15-89326947-CCCT-C
gnomAD v4:
15-89326947-CCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89326949_89326951del , CM000677.2:g.89326949_89326951del | GRCh38 |
| NC_000015.9:g.89870180_89870182del , CM000677.1:g.89870180_89870182del | GRCh37 |
| NC_000015.8:g.87671184_87671186del | NCBI36 |
| NG_008218.1:g.12846_12848del | |
| NG_008218.2:g.12846_12848del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1547_1549del | ENSP00000516154.1:p.Glu516del | |
| ENST00000268124.11:c.1547_1549del MANE Select | ENSP00000268124.5:p.Glu516del | |
| ENST00000530292.3:c.1148_1150del | ENSP00000432885.2:p.Glu383del | |
| ENST00000635986.2:c.1547_1549del | ENSP00000490653.2:p.Glu516del | |
| ENST00000636774.1:c.*114_*116del | ENSP00000489799.1:n.*114_*116del | |
| ENST00000637238.1:c.284_286del | ENSP00000490756.1:p.Glu95del | |
| ENST00000637264.1:c.619_621del | ||
| ENST00000666746.1:c.1124_1126del | ||
| ENST00000672071.1:n.1745_1747del | ||
| ENST00000672923.2:n.1650_1652del | ||
| ENST00000268124.9:c.1547_1549del | ENSP00000268124.5:p.Glu516del | |
| ENST00000442287.6:c.1547_1549del | ENSP00000399851.2:p.Glu516del | |
| ENST00000631044.2:c.*930_*932del | ENSP00000486730.1:n.*930_*932del | |
| NM_001126131.1:c.1547_1549del | NP_001119603.1:p.Glu516del | |
| NM_002693.2:c.1547_1549del | NP_002684.1:p.Glu516del | |
| NM_001126131.2:c.1547_1549del | NP_001119603.1:p.Glu516del | |
| NM_002693.3:c.1547_1549del MANE Select | NP_002684.1:p.Glu516del |