Linked Data
dbSNP Id:
rs1442052996
MyVariant Identifiers:
chr14:g.69425526_69425527insCCCAGC (hg19)
chr14:g.68958809_68958810insCCCAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68958813_68958818dup , CM000676.2:g.68958813_68958818dup | GRCh38 |
| NC_000014.8:g.69425530_69425535dup , CM000676.1:g.69425530_69425535dup | GRCh37 |
| NC_000014.7:g.68495283_68495288dup | NCBI36 |
| NG_029480.1:g.25552_25557dup , LRG_886:g.25552_25557dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000554508.6:c.-91+3495_-91+3500dup | ENSP00000507578.1:n.-91+3495_-91+3500dup | |
| ENST00000682130.1:n.393+20137_393+20142dup | ||
| ENST00000682291.1:c.105+20137_105+20142dup | ENSP00000507093.1:n.105+20137_105+20142du... | |
| ENST00000682298.1:n.393+20137_393+20142dup | ||
| ENST00000682331.1:c.105+20137_105+20142dup | ENSP00000508329.1:n.105+20137_105+20142du... | |
| ENST00000682378.1:n.393+20137_393+20142dup | ||
| ENST00000682381.1:n.393+20137_393+20142dup | ||
| ENST00000682559.1:c.105+20137_105+20142dup | ENSP00000507271.1:n.105+20137_105+20142du... | |
| ENST00000682602.1:n.199+20137_199+20142dup | ||
| ENST00000683069.1:n.393+20137_393+20142dup | ||
| ENST00000683198.1:c.105+20137_105+20142dup | ENSP00000507889.1:n.105+20137_105+20142du... | |
| ENST00000683225.1:c.-91+12632_-91+12637dup | ENSP00000506977.1:n.-91+12632_-91+12637du... | |
| ENST00000683261.1:n.393+20137_393+20142dup | ||
| ENST00000683267.1:c.105+20137_105+20142dup | ENSP00000508356.1:n.105+20137_105+20142du... | |
| ENST00000683342.1:c.105+20137_105+20142dup | ENSP00000508301.1:n.105+20137_105+20142du... | |
| ENST00000683780.1:n.393+20137_393+20142dup | ||
| ENST00000684146.1:n.393+20137_393+20142dup | ||
| ENST00000684340.1:n.393+20137_393+20142dup | ||
| ENST00000684598.1:c.105+20137_105+20142dup | ENSP00000507785.1:n.105+20137_105+20142du... | |
| ENST00000684638.1:c.105+20137_105+20142dup | ENSP00000507609.1:n.105+20137_105+20142du... | |
| ENST00000684639.1:c.105+20137_105+20142dup | ENSP00000507653.1:n.105+20137_105+20142du... | |
| ENST00000684713.1:c.105+20137_105+20142dup | ENSP00000507155.1:n.105+20137_105+20142du... | |
| ENST00000394419.9:c.105+20137_105+20142dup MANE Select | ENSP00000377941.4:n.105+20137_105+20142du... | |
| ENST00000679147.1:c.105+20137_105+20142dup | ENSP00000504355.1:n.105+20137_105+20142du... | |
| ENST00000193403.10:c.105+20137_105+20142dup | ENSP00000193403.6:n.105+20137_105+20142du... | |
| ENST00000376839.7:c.-91+18563_-91+18568dup | ENSP00000366035.3:n.-91+18563_-91+18568du... | |
| ENST00000394419.8:c.105+20137_105+20142dup | ENSP00000377941.4:n.105+20137_105+20142du... | |
| ENST00000438964.6:c.105+20137_105+20142dup | ENSP00000414272.2:n.105+20137_105+20142du... | |
| ENST00000538545.6:c.105+20137_105+20142dup | ENSP00000439828.2:n.105+20137_105+20142du... | |
| ENST00000553370.5:c.-91+18759_-91+18764dup | ENSP00000450925.1:n.-91+18759_-91+18764du... | |
| ENST00000553659.1:c.102+19135_102+19140dup | ENSP00000451086.1:n.102+19135_102+19140du... | |
| ENST00000555616.5:c.-91+19362_-91+19367dup | ENSP00000450903.1:n.-91+19362_-91+19367du... | |
| ENST00000556433.5:c.42+19402_42+19407dup | ENSP00000450764.1:n.42+19402_42+19407dup | |
| ENST00000556571.1:c.36+19201_36+19206dup | ENSP00000452423.1:n.36+19201_36+19206dup | |
| NM_001102.3:c.105+20137_105+20142dup | NP_001093.1:n.105+20137_105+20142dup | |
| NM_001130004.1:c.105+20137_105+20142dup , LRG_886t1:c.105+20137_105+20142dup | NP_001123476.1:n.105+20137_105+20142dup | |
| NM_001130005.1:c.105+20137_105+20142dup | NP_001123477.1:n.105+20137_105+20142dup | |
| XM_011537269.1:c.105+20137_105+20142dup | XP_011535571.1:n.105+20137_105+20142dup | |
| XM_011537270.1:c.42+19402_42+19407dup | XP_011535572.1:n.42+19402_42+19407dup | |
| XM_011537271.1:c.42+19402_42+19407dup | XP_011535573.1:n.42+19402_42+19407dup | |
| XM_017021722.2:c.105+20137_105+20142dup | XP_016877211.1:n.105+20137_105+20142dup | |
| XM_017021723.2:c.105+20137_105+20142dup | XP_016877212.1:n.105+20137_105+20142dup | |
| XM_017021725.1:c.42+19402_42+19407dup | XP_016877214.1:n.42+19402_42+19407dup | |
| XM_017021726.2:c.42+19402_42+19407dup | XP_016877215.1:n.42+19402_42+19407dup | |
| XM_017021727.2:c.105+20137_105+20142dup | XP_016877216.1:n.105+20137_105+20142dup | |
| XM_017021728.2:c.42+19402_42+19407dup | XP_016877217.1:n.42+19402_42+19407dup | |
| NM_001102.4:c.105+20137_105+20142dup | NP_001093.1:n.105+20137_105+20142dup | |
| NM_001130005.2:c.105+20137_105+20142dup | NP_001123477.1:n.105+20137_105+20142dup | |
| NM_001130004.2:c.105+20137_105+20142dup MANE Select | NP_001123476.1:n.105+20137_105+20142dup |