Linked Data
ClinVar Variation Id:
10254
ClinVar RCV Id:
RCV000010967
dbSNP Id:
rs387906451
PubMed:
PMID:8281136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154930099del , CM000685.2:g.154930099del | GRCh38 |
| NC_000023.10:g.154158374del , CM000685.1:g.154158374del | GRCh37 |
| NC_000023.9:g.153811568del | NCBI36 |
| NG_011403.1:g.97626del | |
| NG_011403.2:g.97626del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.3692del MANE Select | ENSP00000353393.4:p.Pro1231LeufsTer6 | |
| ENST00000360256.8:c.3692del | ENSP00000353393.4:p.Pro1231LeufsTer6 | |
| NM_000132.3:c.3692del | NP_000123.1:p.Pro1231LeufsTer6 | |
| XM_011531126.1:c.3587del | XP_011529428.1:p.Pro1196LeufsTer6 | |
| NM_000132.4:c.3692del MANE Select | NP_000123.1:p.Pro1231LeufsTer6 |