Linked Data
ClinVar Variation Id:
218147
dbSNP Id:
rs864321672
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151406276dup , CM000663.2:g.151406276dup | GRCh38 |
| NC_000001.10:g.151378752dup , CM000663.1:g.151378752dup | GRCh37 |
| NC_000001.9:g.149645376dup | NCBI36 |
| NG_046601.1:g.58194dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710270.1:c.2811dup | ENSP00000518163.1:p.Thr938HisfsTer22 | |
| ENST00000392723.6:c.2604dup | ENSP00000376484.1:p.Thr869HisfsTer22 | |
| ENST00000439756.2:c.2763dup | ENSP00000390156.2:p.Thr922HisfsTer22 | |
| ENST00000703168.1:c.2784dup | ENSP00000515214.1:p.Thr929HisfsTer22 | |
| ENST00000271715.7:c.2763dup MANE Select | ENSP00000271715.2:p.Thr922HisfsTer22 | |
| ENST00000271715.6:c.2763dup | ENSP00000271715.2:p.Thr922HisfsTer22 | |
| ENST00000358476.7:n.2911dup | ||
| ENST00000368863.6:c.2478dup | ENSP00000357856.2:p.Thr827HisfsTer22 | |
| ENST00000392723.5:c.2604dup | ENSP00000376484.1:p.Thr869HisfsTer22 | |
| ENST00000409503.5:c.2736dup | ENSP00000386836.1:p.Thr913HisfsTer22 | |
| ENST00000491586.5:c.2631dup | ENSP00000418408.1:p.Thr878HisfsTer22 | |
| ENST00000531094.5:c.2577dup | ENSP00000431259.1:p.Thr860HisfsTer22 | |
| NM_001194937.1:c.2736dup | NP_001181866.1:p.Thr913HisfsTer22 | |
| NM_001194938.1:c.2577dup | NP_001181867.1:p.Thr860HisfsTer22 | |
| NM_015100.3:c.2763dup | NP_055915.2:p.Thr922HisfsTer22 | |
| NM_145796.3:c.2478dup | NP_665739.3:p.Thr827HisfsTer22 | |
| NM_207171.2:c.2604dup | NP_997054.1:p.Thr869HisfsTer22 | |
| XM_005244999.1:c.2763dup | XP_005245056.1:p.Thr922HisfsTer22 | |
| XM_005245000.3:c.2763dup | XP_005245057.1:p.Thr922HisfsTer22 | |
| XM_005245001.1:c.2763dup | XP_005245058.1:p.Thr922HisfsTer22 | |
| XM_005245005.1:c.2604dup | XP_005245062.1:p.Thr869HisfsTer22 | |
| XM_005245006.3:c.2604dup | XP_005245063.1:p.Thr869HisfsTer22 | |
| XM_011509330.1:c.2655dup | XP_011507632.1:p.Thr886HisfsTer22 | |
| XM_011509331.1:c.2406dup | XP_011507633.1:p.Thr803HisfsTer22 | |
| XM_005244999.3:c.2763dup | XP_005245056.1:p.Thr922HisfsTer22 | |
| XM_005245000.4:c.2763dup | XP_005245057.1:p.Thr922HisfsTer22 | |
| XM_005245001.2:c.2763dup | XP_005245058.1:p.Thr922HisfsTer22 | |
| XM_005245005.2:c.2604dup | XP_005245062.1:p.Thr869HisfsTer22 | |
| XM_005245006.5:c.2604dup | XP_005245063.1:p.Thr869HisfsTer22 | |
| XM_017000744.1:c.2784dup | XP_016856233.1:p.Thr929HisfsTer22 | |
| XM_017000745.2:c.2736dup | XP_016856234.1:p.Thr913HisfsTer22 | |
| XM_017000746.1:c.2736dup | XP_016856235.1:p.Thr913HisfsTer22 | |
| XM_017000748.1:c.2604dup | XP_016856237.1:p.Thr869HisfsTer22 | |
| XM_017000749.1:c.2604dup | XP_016856238.1:p.Thr869HisfsTer22 | |
| XM_024454305.1:c.2637dup | XP_024310073.1:p.Thr880HisfsTer22 | |
| XM_024454306.1:c.1563dup | XP_024310074.1:p.Thr522HisfsTer22 | |
| XR_002959801.1:n.2618dup | ||
| NM_015100.4:c.2763dup MANE Select | NP_055915.2:p.Thr922HisfsTer22 | |
| NM_001194937.2:c.2736dup | NP_001181866.1:p.Thr913HisfsTer22 | |
| NM_001194938.2:c.2577dup | NP_001181867.1:p.Thr860HisfsTer22 | |
| NM_145796.4:c.2478dup | NP_665739.3:p.Thr827HisfsTer22 |