Linked Data
ClinVar Variation Id:
1330138
ClinVar RCV Id:
RCV001801155
dbSNP Id:
rs2133586557
gnomAD v4:
11-5225816-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225820del , CM000673.2:g.5225820del | GRCh38 |
| NC_000011.9:g.5247050del , CM000673.1:g.5247050del | GRCh37 |
| NC_000011.8:g.5203626del | NCBI36 |
| NG_000007.3:g.71799del | |
| NG_059281.1:g.6255del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.316-91del | ENSP00000494175.1:n.316-91del | |
| ENST00000335295.4:c.316-91del MANE Select | ENSP00000333994.3:n.316-91del | |
| ENST00000475226.1:n.248-91del | ||
| ENST00000633227.1:c.*132-91del | ENSP00000488004.1:n.*132-91del | |
| NM_000518.4:c.316-91del | NP_000509.1:n.316-91del | |
| NM_000518.5:c.316-91del MANE Select | NP_000509.1:n.316-91del |