Linked Data
ClinVar Variation Id:
14313
ClinVar RCV Id:
RCV000015389
dbSNP Id:
rs1310082996
gnomAD v2:
16-89986102-ATCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919698_89919700del , CM000678.2:g.89919698_89919700del | GRCh38 |
| NC_000016.9:g.89986106_89986108del , CM000678.1:g.89986106_89986108del | GRCh37 |
| NC_000016.8:g.88513607_88513609del | NCBI36 |
| NG_012026.1:g.6820_6822del | |
| NG_027810.1:g.2690_2692del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.440_442del MANE Select | ENSP00000451605.1:p.Phe147del | |
| ENST00000639847.1:c.440_442del | ENSP00000492011.1:p.Phe147del | |
| ENST00000555147.1:c.440_442del | ENSP00000451605.1:p.Phe147del | |
| ENST00000555427.1:c.440_442del | ENSP00000451760.1:p.Phe147del | |
| ENST00000556922.1:c.440_442del | ENSP00000451560.1:p.Phe147del | |
| NM_002386.3:c.440_442del | NP_002377.4:p.Phe147del | |
| NM_002386.4:c.440_442del MANE Select | NP_002377.4:p.Phe147del |