Linked Data
ClinVar Variation Id:
120288
ClinVar RCV Id:
RCV000106369
dbSNP Id:
rs281865429
ERepo:
CA267677/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852824del , CM000674.2:g.102852824del | GRCh38 |
| NC_000012.11:g.103246602del , CM000674.1:g.103246602del | GRCh37 |
| NC_000012.10:g.101770732del | NCBI36 |
| NG_008690.1:g.69783del | |
| NG_008690.2:g.110591del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.837del MANE Select | ENSP00000448059.1:p.Glu280AsnfsTer? | |
| ENST00000307000.7:c.822del | ENSP00000303500.2:p.Glu275AsnfsTer? | |
| ENST00000549247.6:n.596del | ||
| ENST00000553106.5:c.837del | ENSP00000448059.1:p.Glu280AsnfsTer? | |
| NM_000277.1:c.837del | NP_000268.1:p.Glu280AsnfsTer? | |
| XM_011538422.1:c.837del | XP_011536724.1:p.Glu280AsnfsTer? | |
| NM_000277.2:c.837del | NP_000268.1:p.Glu280AsnfsTer? | |
| NM_001354304.1:c.837del | NP_001341233.1:p.Glu280AsnfsTer? | |
| NM_000277.3:c.837del MANE Select | NP_000268.1:p.Glu280AsnfsTer? | |
| NM_001354304.2:c.837del | NP_001341233.1:p.Glu280AsnfsTer? |