Linked Data
ClinVar Variation Id:
370300
ClinVar RCV Id:
RCV000411417
dbSNP Id:
rs1057516385
gnomAD v4:
12-120737089-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737090del , CM000674.2:g.120737090del | GRCh38 |
| NC_000012.11:g.121174893del , CM000674.1:g.121174893del | GRCh37 |
| NC_000012.10:g.119659276del | NCBI36 |
| NG_007991.1:g.16323del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.315del MANE Select | ENSP00000242592.4:p.Ser106AlafsTer11 | |
| ENST00000242592.8:c.315del | ENSP00000242592.4:p.Ser106AlafsTer11 | |
| ENST00000411593.2:c.315del | ENSP00000401045.2:p.Ser106AlafsTer11 | |
| ENST00000539690.1:n.427del | ||
| NM_000017.3:c.315del | NP_000008.1:p.Ser106AlafsTer11 | |
| NM_001302554.1:c.315del | NP_001289483.1:p.Ser106AlafsTer11 | |
| NM_000017.4:c.315del MANE Select | NP_000008.1:p.Ser106AlafsTer11 | |
| NM_001302554.2:c.315del | NP_001289483.1:p.Ser106AlafsTer11 |