Linked Data
ClinVar Variation Id:
981076
dbSNP Id:
rs1257175417
gnomAD v3:
11-5225824-GA-G
gnomAD v4:
11-5225824-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225826del , CM000673.2:g.5225826del | GRCh38 |
| NC_000011.9:g.5247056del , CM000673.1:g.5247056del | GRCh37 |
| NC_000011.8:g.5203632del | NCBI36 |
| NG_000007.3:g.71791del | |
| NG_059281.1:g.6247del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.316-99del | ENSP00000494175.1:n.316-99del | |
| ENST00000335295.4:c.316-99del MANE Select | ENSP00000333994.3:n.316-99del | |
| ENST00000475226.1:n.248-99del | ||
| ENST00000633227.1:c.*132-99del | ENSP00000488004.1:n.*132-99del | |
| NM_000518.4:c.316-99del | NP_000509.1:n.316-99del | |
| NM_000518.5:c.316-99del MANE Select | NP_000509.1:n.316-99del |