Linked Data
dbSNP Id:
rs59886367
ExAC:
17:79477898 G / GCC
gnomAD v2:
17-79477898-G-GCC
gnomAD v4:
17-81510872-G-GCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81510877_81510878dup , CM000679.2:g.81510877_81510878dup | GRCh38 |
| NC_000017.10:g.79477903_79477904dup , CM000679.1:g.79477903_79477904dup | GRCh37 |
| NC_000017.9:g.77092498_77092499dup | NCBI36 |
| NG_011433.1:g.6928_6929dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.985-41_985-40dup | ENSP00000466346.2:n.985-41_985-40dup | |
| ENST00000571691.6:c.913-41_913-40dup | ENSP00000461407.2:n.913-41_913-40dup | |
| ENST00000571721.6:c.985-41_985-40dup | ENSP00000460660.2:n.985-41_985-40dup | |
| ENST00000572105.7:c.*429-41_*429-40dup | ENSP00000462823.1:n.*429-41_*429-40dup | |
| ENST00000573283.7:c.985-41_985-40dup MANE Select | ENSP00000458435.1:n.985-41_985-40dup | |
| ENST00000574671.6:n.1385-41_1385-40dup | ||
| ENST00000575659.6:c.985-41_985-40dup | ENSP00000459119.2:n.985-41_985-40dup | |
| ENST00000575994.6:c.985-41_985-40dup | ENSP00000460464.2:n.985-41_985-40dup | |
| ENST00000576214.3:n.1286-41_1286-40dup | ||
| ENST00000576544.6:c.985-41_985-40dup | ENSP00000461672.1:n.985-41_985-40dup | |
| ENST00000615544.5:c.985-41_985-40dup | ENSP00000477968.1:n.985-41_985-40dup | |
| ENST00000644774.2:c.958-41_958-40dup | ENSP00000493648.2:n.958-41_958-40dup | |
| ENST00000679410.1:n.1188-41_1188-40dup | ||
| ENST00000679480.1:c.985-41_985-40dup | ENSP00000506201.1:n.985-41_985-40dup | |
| ENST00000679535.1:n.1286-41_1286-40dup | ||
| ENST00000679778.1:c.985-41_985-40dup | ENSP00000505235.1:n.985-41_985-40dup | |
| ENST00000680227.1:c.985-41_985-40dup | ENSP00000506253.1:n.985-41_985-40dup | |
| ENST00000680727.1:c.985-41_985-40dup | ENSP00000505193.1:n.985-41_985-40dup | |
| ENST00000681052.1:c.985-41_985-40dup | ENSP00000505060.1:n.985-41_985-40dup | |
| ENST00000681092.1:c.*789-41_*789-40dup | ENSP00000506720.1:n.*789-41_*789-40dup | |
| ENST00000681842.1:c.985-41_985-40dup | ENSP00000506126.1:n.985-41_985-40dup | |
| ENST00000331925.6:c.985-41_985-40dup | ENSP00000331514.2:n.985-41_985-40dup | |
| ENST00000572105.6:c.*429-41_*429-40dup | ENSP00000462823.1:n.*429-41_*429-40dup | |
| ENST00000573283.5:c.985-41_985-40dup | ENSP00000458435.1:n.985-41_985-40dup | |
| ENST00000574671.5:n.844-41_844-40dup | ||
| ENST00000575087.5:c.985-41_985-40dup | ENSP00000459124.1:n.985-41_985-40dup | |
| ENST00000575842.5:c.985-41_985-40dup | ENSP00000458162.1:n.985-41_985-40dup | |
| ENST00000576209.5:n.870-41_870-40dup | ||
| ENST00000576544.5:c.985-41_985-40dup | ENSP00000461672.1:n.985-41_985-40dup | |
| ENST00000576917.5:n.1117-41_1117-40dup | ||
| ENST00000615544.4:c.985-41_985-40dup | ENSP00000477968.1:n.985-41_985-40dup | |
| NM_001199954.1:c.985-41_985-40dup | NP_001186883.1:n.985-41_985-40dup | |
| NM_001614.3:c.985-41_985-40dup | NP_001605.1:n.985-41_985-40dup | |
| NR_037688.1:n.1124-41_1124-40dup | ||
| NM_001199954.2:c.985-41_985-40dup | NP_001186883.1:n.985-41_985-40dup | |
| NM_001614.4:c.985-41_985-40dup | NP_001605.1:n.985-41_985-40dup | |
| NR_037688.2:n.1057-41_1057-40dup | ||
| NM_001614.5:c.985-41_985-40dup MANE Select | NP_001605.1:n.985-41_985-40dup | |
| NR_037688.3:n.1057-41_1057-40dup | ||
| NM_001199954.3:c.985-41_985-40dup | NP_001186883.1:n.985-41_985-40dup |