Linked Data
ClinVar Variation Id:
1091467
dbSNP Id:
rs746631999
ExAC:
11:5246997 AG / A
gnomAD v2:
11-5246997-AG-A
gnomAD v3:
11-5225767-AG-A
gnomAD v4:
11-5225767-AG-A
MyVariant Identifiers:
chr11:g.5246998del (hg19)
chr11:g.5225769del (hg38)
chr11:g.5225768del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225770del , CM000673.2:g.5225770del | GRCh38 |
| NC_000011.9:g.5247000del , CM000673.1:g.5247000del | GRCh37 |
| NC_000011.8:g.5203576del | NCBI36 |
| NG_000007.3:g.71848del | |
| NG_059281.1:g.6304del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.316-42del | ENSP00000494175.1:n.316-42del | |
| ENST00000335295.4:c.316-42del MANE Select | ENSP00000333994.3:n.316-42del | |
| ENST00000475226.1:n.248-42del | ||
| ENST00000633227.1:c.*132-42del | ENSP00000488004.1:n.*132-42del | |
| NM_000518.4:c.316-42del | NP_000509.1:n.316-42del | |
| NM_000518.5:c.316-42del MANE Select | NP_000509.1:n.316-42del |