Linked Data
dbSNP Id:
rs777649454
ExAC:
3:193185233 TC / T
gnomAD v2:
3-193185233-TC-T
gnomAD v4:
3-193467444-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193467446del , CM000665.2:g.193467446del | GRCh38 |
| NC_000003.11:g.193185235del , CM000665.1:g.193185235del | GRCh37 |
| NC_000003.10:g.194667929del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342695.9:c.985del MANE Select | ENSP00000339182.4:p.Asp329IlefsTer? | |
| ENST00000295548.3:c.985del | ENSP00000295548.3:p.Asp329IlefsTer? | |
| ENST00000342695.8:c.985del | ENSP00000339182.4:p.Asp329IlefsTer? | |
| ENST00000392443.7:c.985del | ENSP00000376238.3:p.Asp329IlefsTer? | |
| ENST00000450950.6:c.*428del | ENSP00000402023.2:n.*428del | |
| ENST00000490925.5:n.1093del | ||
| NM_032279.3:c.985del | NP_115655.2:p.Asp329IlefsTer? | |
| XM_005247829.2:c.985del | XP_005247886.1:p.Asp329IlefsTer? | |
| XM_011513232.1:c.985del | XP_011511534.1:p.Asp329IlefsTer? | |
| XR_241512.2:n.1286del | ||
| XR_924191.1:n.1286del | ||
| XM_011513232.2:c.985del | XP_011511534.1:p.Asp329IlefsTer? | |
| XM_017007318.1:c.658del | XP_016862807.1:p.Asp220IlefsTer? | |
| XM_017007319.1:c.985del | XP_016862808.1:p.Asp329IlefsTer? | |
| XR_001740324.2:n.1055del | ||
| XR_001740325.1:n.1055del | ||
| XR_002959602.1:n.1219del | ||
| XR_924191.3:n.1055del | ||
| NM_032279.4:c.985del MANE Select | NP_115655.2:p.Asp329IlefsTer? |