Linked Data
ClinVar Variation Id:
259292
dbSNP Id:
rs34939176
ExAC:
16:68857544 C / CA
gnomAD v2:
16-68857544-C-CA
gnomAD v3:
16-68823641-C-CA
gnomAD v4:
16-68823641-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68823643dup , CM000678.2:g.68823643dup | GRCh38 |
| NC_000016.9:g.68857546dup , CM000678.1:g.68857546dup | GRCh37 |
| NC_000016.8:g.67415047dup | NCBI36 |
| NG_008021.1:g.91352dup , LRG_301:g.91352dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2164+17dup MANE Select | ENSP00000261769.4:n.2164+17dup | |
| ENST00000261769.9:c.2164+17dup | ENSP00000261769.4:n.2164+17dup | |
| ENST00000422392.6:c.1981+17dup | ENSP00000414946.2:n.1981+17dup | |
| ENST00000562118.1:n.382+17dup | ||
| ENST00000562836.5:n.2235+17dup | ||
| ENST00000566510.5:c.*830+17dup | ENSP00000458139.1:n.*830+17dup | |
| ENST00000566612.5:c.*404+17dup | ENSP00000454782.1:n.*404+17dup | |
| ENST00000611625.4:c.2227+17dup | ENSP00000481063.1:n.2227+17dup | |
| ENST00000612417.4:c.1830+1524dup | ENSP00000478360.1:n.1830+1524dup | |
| ENST00000621016.4:c.1865+1489dup | ENSP00000480664.1:n.1865+1489dup | |
| NM_004360.3:c.2164+17dup , LRG_301t1:c.2164+17dup | NP_004351.1:n.2164+17dup | |
| XM_011523488.1:c.1429+17dup | XP_011521790.1:n.1429+17dup | |
| XM_011523489.1:c.1429+17dup | XP_011521791.1:n.1429+17dup | |
| NM_001317184.1:c.1981+17dup | NP_001304113.1:n.1981+17dup | |
| NM_001317185.1:c.616+17dup | NP_001304114.1:n.616+17dup | |
| NM_001317186.1:c.199+17dup | NP_001304115.1:n.199+17dup | |
| NM_004360.4:c.2164+17dup | NP_004351.1:n.2164+17dup | |
| NM_004360.5:c.2164+17dup MANE Select | NP_004351.1:n.2164+17dup | |
| NM_001317184.2:c.1981+17dup | NP_001304113.1:n.1981+17dup | |
| NM_001317185.2:c.616+17dup | NP_001304114.1:n.616+17dup | |
| NM_001317186.2:c.199+17dup | NP_001304115.1:n.199+17dup |