Linked Data
ClinVar Variation Id:
326771
ClinVar RCV Id:
RCV000368539
dbSNP Id:
rs566863613
gnomAD v2:
18-42644820-TC-T
gnomAD v3:
18-45064855-TC-T
gnomAD v4:
18-45064855-TC-T
MyVariant Identifiers:
chr18:g.42644823del (hg19)
chr18:g.42644821del (hg19)
chr18:g.45064858del (hg38)
chr18:g.45064856del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45064858del , CM000680.2:g.45064858del | GRCh38 |
| NC_000018.9:g.42644823del , CM000680.1:g.42644823del | GRCh37 |
| NC_000018.8:g.40898821del | NCBI36 |
| NG_027527.1:g.389686del | |
| NG_027527.2:g.389686del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649279.2:c.*1160del MANE Select | ENSP00000497406.1:n.*1160del | |
| ENST00000677077.1:c.*1160del | ENSP00000503656.1:n.*1160del | |
| ENST00000677130.1:c.*1160del | ENSP00000503094.1:n.*1160del | |
| ENST00000677699.1:c.*1160del | ENSP00000503964.1:n.*1160del | |
| ENST00000678152.1:c.*1160del | ENSP00000502995.1:n.*1160del | |
| ENST00000282030.5:c.*1160del | ENSP00000282030.5:n.*1160del | |
| NM_015559.2:c.*1160del | NP_056374.2:n.*1160del | |
| XM_005258243.3:c.*1160del | XP_005258300.1:n.*1160del | |
| NM_015559.3:c.*1160del MANE Select | NP_056374.2:n.*1160del | |
| XM_024451149.1:c.*1160del | XP_024306917.1:n.*1160del | |
| XM_024451150.1:c.*1160del | XP_024306918.1:n.*1160del | |
| XM_024451151.1:c.*1160del | XP_024306919.1:n.*1160del | |
| XM_024451152.1:c.*1160del | XP_024306920.1:n.*1160del | |
| XM_024451153.1:c.*1160del | XP_024306921.1:n.*1160del | |
| XM_024451154.1:c.*1160del | XP_024306922.1:n.*1160del | |
| XM_024451155.1:c.*1160del | XP_024306923.1:n.*1160del | |
| XM_024451156.1:c.*1160del | XP_024306924.1:n.*1160del | |
| XM_024451157.1:c.*1160del | XP_024306925.1:n.*1160del | |
| NM_001379141.1:c.*1160del | NP_001366070.1:n.*1160del | |
| NM_001379142.1:c.*1160del | NP_001366071.1:n.*1160del |