Linked Data
ClinVar Variation Id:
1208781
ClinVar RCV Id:
RCV001577219
dbSNP Id:
rs56821289
gnomAD v2:
15-65273075-C-CAACAAACA
gnomAD v3:
15-64980737-C-CAACAAACA
gnomAD v4:
15-64980737-C-CAACAAACA
MyVariant Identifiers:
chr15:g.65273087_65273088insAACAAACA (hg19)
chr15:g.65273083_65273084insAACAAACA (hg19)
chr15:g.65273079_65273080insAACAAACA (hg19)
chr15:g.65273075_65273076insAACAAACA (hg19)
chr15:g.64980749_64980750insAACAAACA (hg38)
chr15:g.64980745_64980746insAACAAACA (hg38)
chr15:g.64980737_64980738insAACAAACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64980765_64980772dup , CM000677.2:g.64980765_64980772dup | GRCh38 |
| NC_000015.9:g.65273103_65273110dup , CM000677.1:g.65273103_65273110dup | GRCh37 |
| NC_000015.8:g.63060156_63060163dup | NCBI36 |
| NG_008992.2:g.14169_14176dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204566.7:c.225+119_225+126dup MANE Select | ENSP00000204566.2:n.225+119_225+126dup | |
| ENST00000204566.6:c.225+119_225+126dup | ENSP00000204566.2:n.225+119_225+126dup | |
| ENST00000416889.6:c.225+119_225+126dup | ENSP00000394846.2:n.225+119_225+126dup | |
| ENST00000433215.6:c.225+119_225+126dup | ENSP00000404111.2:n.225+119_225+126dup | |
| ENST00000557795.5:c.225+119_225+126dup | ENSP00000453541.1:n.225+119_225+126dup | |
| ENST00000558765.5:c.225+119_225+126dup | ENSP00000452728.1:n.225+119_225+126dup | |
| ENST00000559199.5:c.-238+119_-238+126dup | ENSP00000456365.1:n.-238+119_-238+126dup | |
| ENST00000559677.5:c.225+119_225+126dup | ENSP00000453333.1:n.225+119_225+126dup | |
| ENST00000560564.1:n.444+119_444+126dup | ||
| ENST00000561078.5:c.225+119_225+126dup | ENSP00000452865.1:n.225+119_225+126dup | |
| NM_001127889.4:c.225+119_225+126dup | NP_001121361.1:n.225+119_225+126dup | |
| NM_001127890.4:c.225+119_225+126dup | NP_001121362.1:n.225+119_225+126dup | |
| NM_016630.6:c.225+119_225+126dup | NP_057714.1:n.225+119_225+126dup | |
| XM_005254436.3:c.225+119_225+126dup | XP_005254493.1:n.225+119_225+126dup | |
| XM_005254437.3:c.225+119_225+126dup | XP_005254494.1:n.225+119_225+126dup | |
| XM_006720564.2:c.225+119_225+126dup | XP_006720627.1:n.225+119_225+126dup | |
| XM_011521662.1:c.225+119_225+126dup | XP_011519964.1:n.225+119_225+126dup | |
| XM_005254437.4:c.225+119_225+126dup | XP_005254494.1:n.225+119_225+126dup | |
| XM_017022297.1:c.225+119_225+126dup | XP_016877786.1:n.225+119_225+126dup | |
| XM_017022298.1:c.225+119_225+126dup | XP_016877787.1:n.225+119_225+126dup | |
| NM_016630.7:c.225+119_225+126dup MANE Select | NP_057714.1:n.225+119_225+126dup | |
| NM_001127889.5:c.225+119_225+126dup | NP_001121361.1:n.225+119_225+126dup | |
| NM_001127890.5:c.225+119_225+126dup | NP_001121362.1:n.225+119_225+126dup |