Linked Data
ClinVar Variation Id:
348402
ClinVar RCV Id:
RCV000383472
dbSNP Id:
rs886059308
gnomAD v3:
4-1893718-A-AT
gnomAD v4:
4-1893718-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1893725dup , CM000666.2:g.1893725dup | GRCh38 |
| NC_000004.11:g.1895452dup , CM000666.1:g.1895452dup | GRCh37 |
| NC_000004.10:g.1865250dup | NCBI36 |
| NG_009269.1:g.27330dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398261.6:c.-30+1462dup | ENSP00000381311.1:n.-30+1462dup | |
| ENST00000508803.6:c.-29-6901dup MANE Select | ENSP00000423972.1:n.-29-6901dup | |
| ENST00000312087.10:c.-384-5dup | ENSP00000308780.6:n.-384-5dup | |
| ENST00000353275.9:c.-384-5dup | ENSP00000329167.5:n.-384-5dup | |
| ENST00000382891.9:c.-30+834dup | ENSP00000372347.5:n.-30+834dup | |
| ENST00000382892.6:c.-205+834dup | ENSP00000372348.2:n.-205+834dup | |
| ENST00000382895.7:c.-384-5dup | ENSP00000372351.3:n.-384-5dup | |
| ENST00000420906.6:c.-384-5dup | ENSP00000399251.2:n.-384-5dup | |
| ENST00000507820.5:c.-209-5dup | ENSP00000421551.1:n.-209-5dup | |
| ENST00000508355.5:n.90-6901dup | ||
| ENST00000508803.5:c.-29-6901dup | ENSP00000423972.1:n.-29-6901dup | |
| ENST00000514045.5:c.-29-6901dup | ENSP00000421681.1:n.-29-6901dup | |
| ENST00000515806.1:c.-30+6035dup | ENSP00000427434.1:n.-30+6035dup | |
| NM_001042424.2:c.-29-6901dup | NP_001035889.1:n.-29-6901dup | |
| NM_007331.1:c.-384-5dup | NP_015627.1:n.-384-5dup | |
| NM_133330.2:c.-384-5dup | NP_579877.1:n.-384-5dup | |
| NM_133331.2:c.-205+834dup | NP_579878.1:n.-205+834dup | |
| NM_133335.3:c.-30+834dup | NP_579890.1:n.-30+834dup | |
| XM_005248002.1:c.-29-6901dup | XP_005248059.1:n.-29-6901dup | |
| XM_005248005.1:c.-29-6901dup | XP_005248062.1:n.-29-6901dup | |
| XM_011513557.1:c.-30+1462dup | XP_011511859.1:n.-30+1462dup | |
| XM_005248002.3:c.-29-6901dup | XP_005248059.1:n.-29-6901dup | |
| XM_005248005.3:c.-29-6901dup | XP_005248062.1:n.-29-6901dup | |
| XM_011513557.2:c.-30+1462dup | XP_011511859.1:n.-30+1462dup | |
| NM_001042424.3:c.-29-6901dup MANE Select | NP_001035889.1:n.-29-6901dup | |
| NM_007331.2:c.-384-5dup | NP_015627.1:n.-384-5dup | |
| NM_133330.3:c.-384-5dup | NP_579877.1:n.-384-5dup | |
| NM_133331.3:c.-205+834dup | NP_579878.1:n.-205+834dup | |
| NM_133335.4:c.-30+834dup | NP_579890.1:n.-30+834dup |