Linked Data
ClinVar Variation Id:
766084
ClinVar RCV Id:
RCV000944577
dbSNP Id:
rs1589892087
gnomAD v4:
11-5226378-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226380del , CM000673.2:g.5226380del | GRCh38 |
| NC_000011.9:g.5247610del , CM000673.1:g.5247610del | GRCh37 |
| NC_000011.8:g.5204186del | NCBI36 |
| NG_000007.3:g.71237del | |
| NG_059281.1:g.5693del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.315+198del | ENSP00000494175.1:n.315+198del | |
| ENST00000335295.4:c.315+198del MANE Select | ENSP00000333994.3:n.315+198del | |
| ENST00000475226.1:n.247+198del | ||
| ENST00000485743.1:n.564del | ||
| ENST00000633227.1:c.*131+198del | ENSP00000488004.1:n.*131+198del | |
| NM_000518.4:c.315+198del | NP_000509.1:n.315+198del | |
| NM_000518.5:c.315+198del MANE Select | NP_000509.1:n.315+198del |