Linked Data
ClinVar Variation Id:
552103
ClinVar RCV Id:
RCV000667309
dbSNP Id:
rs1553261118
MyVariant Identifiers:
chr1:g.215779937_215779940del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779938_215779941del , CM000663.2:g.215779938_215779941del | GRCh38 |
| NC_000001.10:g.215953280_215953283del , CM000663.1:g.215953280_215953283del | GRCh37 |
| NC_000001.9:g.214019903_214019906del | NCBI36 |
| NG_009497.1:g.648457_648460del | |
| NG_009497.2:g.648509_648512del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10842_10845del MANE Select | ENSP00000305941.3:p.Glu3614AspfsTer? | |
| ENST00000674083.1:c.10842_10845del | ENSP00000501296.1:p.Glu3614AspfsTer? | |
| ENST00000307340.7:c.10842_10845del | ENSP00000305941.3:p.Glu3614AspfsTer? | |
| NM_206933.2:c.10842_10845del | NP_996816.2:p.Glu3614AspfsTer? | |
| NM_206933.3:c.10842_10845del | NP_996816.2:p.Glu3614AspfsTer? | |
| NM_206933.4:c.10842_10845del MANE Select | NP_996816.3:p.Glu3614AspfsTer? |