Linked Data
ClinVar Variation Id:
10188
ClinVar RCV Id:
RCV000010901
dbSNP Id:
rs387906437
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969491del , CM000685.2:g.154969491del | GRCh38 |
| NC_000023.10:g.154197766del , CM000685.1:g.154197766del | GRCh37 |
| NC_000023.9:g.153850960del | NCBI36 |
| NG_011403.1:g.58233del | |
| NG_011403.2:g.58233del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.849del MANE Select | ENSP00000353393.4:p.Glu284LysfsTer14 | |
| ENST00000647125.1:c.*725del | ENSP00000496062.1:n.*725del | |
| ENST00000360256.8:c.849del | ENSP00000353393.4:p.Glu284LysfsTer14 | |
| NM_000132.3:c.849del | NP_000123.1:p.Glu284LysfsTer14 | |
| XM_011531126.1:c.744del | XP_011529428.1:p.Glu249LysfsTer14 | |
| NM_000132.4:c.849del MANE Select | NP_000123.1:p.Glu284LysfsTer14 |