Linked Data
ClinVar Variation Id:
10250
ClinVar RCV Id:
RCV000010963
dbSNP Id:
rs387906448
PubMed:
PMID:8307558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154930831_154930832del , CM000685.2:g.154930831_154930832del | GRCh38 |
| NC_000023.10:g.154159106_154159107del , CM000685.1:g.154159106_154159107del | GRCh37 |
| NC_000023.9:g.153812300_153812301del | NCBI36 |
| NG_011403.1:g.96896_96897del | |
| NG_011403.2:g.96896_96897del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.2962_2963del MANE Select | ENSP00000353393.4:p.Ser988TrpfsTer2 | |
| ENST00000647125.1:c.*2628_*2629del | ENSP00000496062.1:n.*2628_*2629del | |
| ENST00000360256.8:c.2962_2963del | ENSP00000353393.4:p.Ser988TrpfsTer2 | |
| NM_000132.3:c.2962_2963del | NP_000123.1:p.Ser988TrpfsTer2 | |
| XM_011531126.1:c.2857_2858del | XP_011529428.1:p.Ser953TrpfsTer2 | |
| NM_000132.4:c.2962_2963del MANE Select | NP_000123.1:p.Ser988TrpfsTer2 |