Linked Data
ClinVar Variation Id:
306248
ClinVar RCV Id:
RCV000333535
dbSNP Id:
rs139577104
gnomAD v2:
11-791209-G-GCA
gnomAD v3:
11-791209-G-GCA
gnomAD v4:
11-791209-G-GCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.791218_791219dup , CM000673.2:g.791218_791219dup | GRCh38 |
| NC_000011.9:g.791218_791219dup , CM000673.1:g.791218_791219dup | GRCh37 |
| NC_000011.8:g.781218_781219dup | NCBI36 |
| NG_023407.1:g.12059_12060dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000628067.3:c.*704_*705dup MANE Select | ENSP00000486058.1:n.*704_*705dup | |
| ENST00000320230.9:c.*704_*705dup | ENSP00000322020.5:n.*704_*705dup | |
| ENST00000628067.2:c.*704_*705dup | ENSP00000486058.1:n.*704_*705dup | |
| NM_001191060.1:c.*704_*705dup | NP_001177989.1:n.*704_*705dup | |
| NM_001191061.1:c.*704_*705dup | NP_001177990.1:n.*704_*705dup | |
| NM_024698.5:c.*704_*705dup | NP_078974.1:n.*704_*705dup | |
| XM_011520369.1:c.*704_*705dup | XP_011518671.1:n.*704_*705dup | |
| XM_011520370.1:c.*704_*705dup | XP_011518672.1:n.*704_*705dup | |
| XM_011520371.1:c.*704_*705dup | XP_011518673.1:n.*704_*705dup | |
| XM_011520370.2:c.*704_*705dup | XP_011518672.1:n.*704_*705dup | |
| XM_011520371.2:c.*704_*705dup | XP_011518673.1:n.*704_*705dup | |
| XM_024448687.1:c.*704_*705dup | XP_024304455.1:n.*704_*705dup | |
| XM_024448688.1:c.*704_*705dup | XP_024304456.1:n.*704_*705dup | |
| XM_024448689.1:c.*704_*705dup | XP_024304457.1:n.*704_*705dup | |
| NM_001191061.2:c.*704_*705dup MANE Select | NP_001177990.1:n.*704_*705dup | |
| NM_024698.6:c.*704_*705dup | NP_078974.1:n.*704_*705dup | |
| NM_001191060.2:c.*704_*705dup | NP_001177989.1:n.*704_*705dup |