Linked Data
ClinVar Variation Id:
854826
dbSNP Id:
rs780806777
ExAC:
19:1399817 TC / T
gnomAD v2:
19-1399817-TC-T
gnomAD v3:
19-1399818-TC-T
gnomAD v4:
19-1399818-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399821del , CM000681.2:g.1399821del | GRCh38 |
| NC_000019.9:g.1399820del , CM000681.1:g.1399820del | GRCh37 |
| NC_000019.8:g.1350820del | NCBI36 |
| NG_009785.1:g.6735del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.301del MANE Select | ENSP00000252288.1:p.Asp101ThrfsTer13 | |
| ENST00000447102.8:c.301del | ENSP00000403536.2:p.Asp101ThrfsTer13 | |
| ENST00000640762.1:c.232del | ENSP00000492031.1:p.Asp78ThrfsTer13 | |
| ENST00000252288.6:c.301del | ENSP00000252288.1:p.Asp101ThrfsTer13 | |
| ENST00000447102.7:c.301del | ENSP00000403536.2:p.Asp101ThrfsTer13 | |
| NM_000156.5:c.301del | NP_000147.1:p.Asp101ThrfsTer13 | |
| NM_138924.2:c.301del | NP_620279.1:p.Asp101ThrfsTer13 | |
| NM_000156.6:c.301del MANE Select | NP_000147.1:p.Asp101ThrfsTer13 | |
| NM_138924.3:c.301del | NP_620279.1:p.Asp101ThrfsTer13 |