Linked Data
ClinVar Variation Id:
317163
dbSNP Id:
rs55909412
gnomAD v2:
15-77287490-G-GCTGC
gnomAD v3:
15-76995149-G-GCTGC
gnomAD v4:
15-76995149-G-GCTGC
MyVariant Identifiers:
chr15:g.77287510_77287513dupCCTG (hg19)
chr15:g.77287513_77287514insCCTG (hg19)
chr15:g.77287498_77287499insCTGC (hg19)
chr15:g.77287490_77287491insCTGC (hg19)
chr15:g.76995169_76995172dupCCTG (hg38)
chr15:g.76995172_76995173insCCTG (hg38)
chr15:g.76995157_76995158insCTGC (hg38)
chr15:g.76995149_76995150insCTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76995169_76995172dup , CM000677.2:g.76995169_76995172dup | GRCh38 |
| NC_000015.9:g.77287510_77287513dup , CM000677.1:g.77287510_77287513dup | GRCh37 |
| NC_000015.8:g.75074565_75074568dup | NCBI36 |
| NG_007526.1:g.5046_5049dup , LRG_172:g.5046_5049dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558012.6:c.-405_-402dup MANE Select | ENSP00000452746.1:n.-405_-402dup | |
| ENST00000379595.7:c.-405_-402dup | ENSP00000368914.3:n.-405_-402dup | |
| ENST00000558012.5:c.-405_-402dup | ENSP00000452746.1:n.-405_-402dup | |
| ENST00000558407.5:c.27-236_27-233dup | ENSP00000453268.1:n.27-236_27-233dup | |
| ENST00000559785.5:c.27-236_27-233dup | ENSP00000452986.1:n.27-236_27-233dup | |
| ENST00000559795.5:n.44_47dup | ||
| ENST00000560223.5:c.-405_-402dup | ENSP00000454118.1:n.-405_-402dup | |
| NM_003978.3:c.-405_-402dup , LRG_172t1:c.-405_-402dup | NP_003969.2:n.-405_-402dup | |
| XM_011522163.1:c.-405_-402dup | XP_011520465.1:n.-405_-402dup | |
| XM_011522166.1:c.-405_-402dup | XP_011520468.1:n.-405_-402dup | |
| XM_011522167.1:c.-405_-402dup | XP_011520469.1:n.-405_-402dup | |
| XM_011522169.1:c.-405_-402dup | XP_011520471.1:n.-405_-402dup | |
| XR_931936.1:n.46_49dup | ||
| XR_931937.1:n.46_49dup | ||
| XR_931938.1:n.46_49dup | ||
| XR_931939.1:n.46_49dup | ||
| XR_931940.1:n.46_49dup | ||
| NM_001321135.1:c.-405_-402dup | NP_001308064.1:n.-405_-402dup | |
| NM_001321136.1:c.-651_-648dup | NP_001308065.1:n.-651_-648dup | |
| NM_001321137.1:c.27-236_27-233dup | NP_001308066.1:n.27-236_27-233dup | |
| NM_003978.4:c.-405_-402dup | NP_003969.2:n.-405_-402dup | |
| NR_135552.1:n.85_88dup | ||
| XM_011522163.2:c.-405_-402dup | XP_011520465.1:n.-405_-402dup | |
| XM_011522166.2:c.-405_-402dup | XP_011520468.1:n.-405_-402dup | |
| XM_011522167.2:c.-405_-402dup | XP_011520469.1:n.-405_-402dup | |
| XM_011522168.3:c.-405_-402dup | XP_011520470.1:n.-405_-402dup | |
| XM_011522169.2:c.-405_-402dup | XP_011520471.1:n.-405_-402dup | |
| XR_931936.2:n.44_47dup | ||
| XR_931937.2:n.44_47dup | ||
| XR_931938.2:n.44_47dup | ||
| XR_931939.2:n.44_47dup | ||
| NM_001321135.2:c.-405_-402dup | NP_001308064.1:n.-405_-402dup | |
| NM_001321136.2:c.-651_-648dup | NP_001308065.1:n.-651_-648dup | |
| NM_003978.5:c.-405_-402dup MANE Select | NP_003969.2:n.-405_-402dup | |
| NR_135552.2:n.44_47dup |