Linked Data
dbSNP Id:
rs995735680
gnomAD v2:
18-19261473-C-CCCAGCCT
gnomAD v3:
18-21681512-C-CCCAGCCT
gnomAD v4:
18-21681512-C-CCCAGCCT
MyVariant Identifiers:
chr18:g.19261473_19261474insCCAGCCT (hg19)
chr18:g.21681512_21681513insCCAGCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21681529_21681535dup , CM000680.2:g.21681529_21681535dup | GRCh38 |
| NC_000018.9:g.19261490_19261496dup , CM000680.1:g.19261490_19261496dup | GRCh37 |
| NC_000018.8:g.17515488_17515494dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289119.7:c.555+2401_555+2407dup MANE Select | ENSP00000289119.2:n.555+2401_555+2407dup | |
| ENST00000289119.6:c.555+2401_555+2407dup | ENSP00000289119.2:n.555+2401_555+2407dup | |
| ENST00000577891.1:c.*74+2401_*74+2407dup | ENSP00000463365.1:n.*74+2401_*74+2407dup | |
| ENST00000578270.5:c.-471+2401_-471+2407dup | ENSP00000462578.1:n.-471+2401_-471+2407dup | |
| ENST00000579875.5:n.485-17289_485-17283dup | ||
| ENST00000580981.5:c.509+20797_509+20803dup | ENSP00000462935.1:n.509+20797_509+20803dup | |
| NM_001308256.1:c.509+20797_509+20803dup | NP_001295185.1:n.509+20797_509+20803dup | |
| NM_138340.4:c.555+2401_555+2407dup | NP_612213.2:n.555+2401_555+2407dup | |
| XM_011525847.1:c.555+2401_555+2407dup | XP_011524149.1:n.555+2401_555+2407dup | |
| XR_243847.1:n.695+2401_695+2407dup | ||
| XR_935209.1:n.650-17289_650-17283dup | ||
| XR_935210.1:n.650-17289_650-17283dup | ||
| XM_011525847.3:c.555+2401_555+2407dup | XP_011524149.1:n.555+2401_555+2407dup | |
| XM_017025572.1:c.-470-17289_-470-17283dup | XP_016881061.1:n.-470-17289_-470-17283dup | |
| XM_017025573.1:c.-471+654_-471+660dup | XP_016881062.1:n.-471+654_-471+660dup | |
| XM_017025574.1:c.-471+242_-471+248dup | XP_016881063.1:n.-471+242_-471+248dup | |
| XM_024451094.1:c.-471+2401_-471+2407dup | XP_024306862.1:n.-471+2401_-471+2407dup | |
| XR_001753151.2:n.683+2401_683+2407dup | ||
| XR_002958165.1:n.683+2401_683+2407dup | ||
| XR_935209.3:n.638-17289_638-17283dup | ||
| XR_935210.3:n.638-17289_638-17283dup | ||
| NM_138340.5:c.555+2401_555+2407dup MANE Select | NP_612213.2:n.555+2401_555+2407dup | |
| NM_001308256.2:c.509+20797_509+20803dup | NP_001295185.1:n.509+20797_509+20803dup |