Linked Data
dbSNP Id:
rs1568203054
gnomAD v2:
18-48573676-T-TAA
MyVariant Identifiers:
chr18:g.48573678_48573679insAA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51047307_51047308dup , CM000680.2:g.51047307_51047308dup | GRCh38 |
| NC_000018.9:g.48573677_48573678dup , CM000680.1:g.48573677_48573678dup | GRCh37 |
| NC_000018.8:g.46827675_46827676dup | NCBI36 |
| NG_013013.2:g.84268_84269dup , LRG_318:g.84268_84269dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.249+12_249+13dup | ENSP00000465878.2:n.249+12_249+13dup | |
| ENST00000589076.6:c.249+12_249+13dup | ENSP00000466934.2:n.249+12_249+13dup | |
| ENST00000589941.2:c.249+12_249+13dup | ENSP00000465874.2:n.249+12_249+13dup | |
| ENST00000590061.2:c.249+12_249+13dup | ENSP00000464772.2:n.249+12_249+13dup | |
| ENST00000593223.2:c.249+12_249+13dup | ENSP00000466118.2:n.249+12_249+13dup | |
| ENST00000611848.2:c.249+12_249+13dup | ENSP00000478613.2:n.249+12_249+13dup | |
| ENST00000342988.8:c.249+12_249+13dup MANE Select | ENSP00000341551.3:n.249+12_249+13dup | |
| ENST00000342988.7:c.249+12_249+13dup | ENSP00000341551.3:n.249+12_249+13dup | |
| ENST00000398417.6:c.249+12_249+13dup | ENSP00000381452.1:n.249+12_249+13dup | |
| ENST00000588745.5:c.249+12_249+13dup | ENSP00000464901.1:n.249+12_249+13dup | |
| ENST00000588860.5:c.249+12_249+13dup | ENSP00000465878.1:n.249+12_249+13dup | |
| ENST00000589076.5:c.249+12_249+13dup | ENSP00000466934.1:n.249+12_249+13dup | |
| ENST00000589706.1:n.117+12_117+13dup | ||
| ENST00000589941.1:c.249+12_249+13dup | ENSP00000465874.1:n.249+12_249+13dup | |
| ENST00000590061.1:c.249+12_249+13dup | ENSP00000464772.1:n.249+12_249+13dup | |
| ENST00000590722.2:c.*272+12_*272+13dup | ENSP00000465737.1:n.*272+12_*272+13dup | |
| ENST00000591914.5:c.249+12_249+13dup | ENSP00000466941.1:n.249+12_249+13dup | |
| ENST00000592186.5:c.249+12_249+13dup | ENSP00000468611.1:n.249+12_249+13dup | |
| ENST00000592911.5:n.28-1379_28-1378dup | ||
| NM_005359.5:c.249+12_249+13dup , LRG_318t1:c.249+12_249+13dup | NP_005350.1:n.249+12_249+13dup | |
| NM_005359.6:c.249+12_249+13dup MANE Select | NP_005350.1:n.249+12_249+13dup |