Linked Data
ClinVar Variation Id:
348488
ClinVar RCV Id:
RCV000401623
dbSNP Id:
rs766138833
gnomAD v2:
4-1982645-A-AG
gnomAD v3:
4-1980918-A-AG
gnomAD v4:
4-1980918-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1980921dup , CM000666.2:g.1980921dup | GRCh38 |
| NC_000004.11:g.1982648dup , CM000666.1:g.1982648dup | GRCh37 |
| NC_000004.10:g.1952446dup | NCBI36 |
| NG_009232.1:g.33314dup | |
| NG_009269.1:g.114526dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508803.6:c.*2012dup MANE Select | ENSP00000423972.1:n.*2012dup | |
| ENST00000677559.1:c.*3876dup | ENSP00000504406.1:n.*3876dup | |
| ENST00000677895.1:c.*2012dup | ENSP00000503076.1:n.*2012dup | |
| ENST00000679039.1:n.3300dup | ||
| ENST00000312087.10:c.*4393dup | ENSP00000308780.6:n.*4393dup | |
| ENST00000353275.9:c.*4260dup | ENSP00000329167.5:n.*4260dup | |
| ENST00000382891.9:c.*2012dup | ENSP00000372347.5:n.*2012dup | |
| ENST00000382892.6:c.*2012dup | ENSP00000372348.2:n.*2012dup | |
| ENST00000382895.7:c.*2012dup | ENSP00000372351.3:n.*2012dup | |
| NM_001042424.2:c.*2012dup | NP_001035889.1:n.*2012dup | |
| NM_133330.2:c.*2012dup | NP_579877.1:n.*2012dup | |
| NM_133331.2:c.*2012dup | NP_579878.1:n.*2012dup | |
| NM_133335.3:c.*2012dup | NP_579890.1:n.*2012dup | |
| XM_005248001.3:c.*2012dup | XP_005248058.1:n.*2012dup | |
| XM_005248002.1:c.*2012dup | XP_005248059.1:n.*2012dup | |
| XM_006713915.2:c.*2012dup | XP_006713978.1:n.*2012dup | |
| XM_011513557.1:c.*2012dup | XP_011511859.1:n.*2012dup | |
| XM_011513558.1:c.*2012dup | XP_011511860.1:n.*2012dup | |
| XM_011513559.1:c.*2012dup | XP_011511861.1:n.*2012dup | |
| XM_011513560.1:c.*2012dup | XP_011511862.1:n.*2012dup | |
| XM_005248001.4:c.*2012dup | XP_005248058.1:n.*2012dup | |
| XM_005248002.3:c.*2012dup | XP_005248059.1:n.*2012dup | |
| XM_011513557.2:c.*2012dup | XP_011511859.1:n.*2012dup | |
| XM_011513560.2:c.*2012dup | XP_011511862.1:n.*2012dup | |
| XM_017008587.1:c.*2012dup | XP_016864076.1:n.*2012dup | |
| XM_017008588.1:c.*2012dup | XP_016864077.1:n.*2012dup | |
| NM_001042424.3:c.*2012dup MANE Select | NP_001035889.1:n.*2012dup | |
| NM_133330.3:c.*2012dup | NP_579877.1:n.*2012dup | |
| NM_133331.3:c.*2012dup | NP_579878.1:n.*2012dup | |
| NM_133335.4:c.*2012dup | NP_579890.1:n.*2012dup |