Linked Data
ClinVar Variation Id:
207797
ClinVar RCV Id:
RCV000190093
dbSNP Id:
rs796052216
MyVariant Identifiers:
chr1:g.151378761dupG (hg19)
chr1:g.151378760_151378761insG (hg19)
chr1:g.151406285dupG (hg38)
chr1:g.151406284_151406285insG (hg38)
PubMed:
PMID:27148570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151406288dup , CM000663.2:g.151406288dup | GRCh38 |
| NC_000001.10:g.151378764dup , CM000663.1:g.151378764dup | GRCh37 |
| NC_000001.9:g.149645388dup | NCBI36 |
| NG_046601.1:g.58181dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710270.1:c.2798dup | ENSP00000518163.1:p.Pro934ThrfsTer26 | |
| ENST00000392723.6:c.2591dup | ENSP00000376484.1:p.Pro865ThrfsTer26 | |
| ENST00000439756.2:c.2750dup | ENSP00000390156.2:p.Pro918ThrfsTer26 | |
| ENST00000703168.1:c.2771dup | ENSP00000515214.1:p.Pro925ThrfsTer26 | |
| ENST00000271715.7:c.2750dup MANE Select | ENSP00000271715.2:p.Pro918ThrfsTer26 | |
| ENST00000271715.6:c.2750dup | ENSP00000271715.2:p.Pro918ThrfsTer26 | |
| ENST00000358476.7:n.2898dup | ||
| ENST00000368863.6:c.2465dup | ENSP00000357856.2:p.Pro823ThrfsTer26 | |
| ENST00000392723.5:c.2591dup | ENSP00000376484.1:p.Pro865ThrfsTer26 | |
| ENST00000409503.5:c.2723dup | ENSP00000386836.1:p.Pro909ThrfsTer26 | |
| ENST00000491586.5:c.2618dup | ENSP00000418408.1:p.Pro874ThrfsTer26 | |
| ENST00000531094.5:c.2564dup | ENSP00000431259.1:p.Pro856ThrfsTer26 | |
| NM_001194937.1:c.2723dup | NP_001181866.1:p.Pro909ThrfsTer26 | |
| NM_001194938.1:c.2564dup | NP_001181867.1:p.Pro856ThrfsTer26 | |
| NM_015100.3:c.2750dup | NP_055915.2:p.Pro918ThrfsTer26 | |
| NM_145796.3:c.2465dup | NP_665739.3:p.Pro823ThrfsTer26 | |
| NM_207171.2:c.2591dup | NP_997054.1:p.Pro865ThrfsTer26 | |
| XM_005244999.1:c.2750dup | XP_005245056.1:p.Pro918ThrfsTer26 | |
| XM_005245000.3:c.2750dup | XP_005245057.1:p.Pro918ThrfsTer26 | |
| XM_005245001.1:c.2750dup | XP_005245058.1:p.Pro918ThrfsTer26 | |
| XM_005245005.1:c.2591dup | XP_005245062.1:p.Pro865ThrfsTer26 | |
| XM_005245006.3:c.2591dup | XP_005245063.1:p.Pro865ThrfsTer26 | |
| XM_011509330.1:c.2642dup | XP_011507632.1:p.Pro882ThrfsTer26 | |
| XM_011509331.1:c.2393dup | XP_011507633.1:p.Pro799ThrfsTer26 | |
| XM_005244999.3:c.2750dup | XP_005245056.1:p.Pro918ThrfsTer26 | |
| XM_005245000.4:c.2750dup | XP_005245057.1:p.Pro918ThrfsTer26 | |
| XM_005245001.2:c.2750dup | XP_005245058.1:p.Pro918ThrfsTer26 | |
| XM_005245005.2:c.2591dup | XP_005245062.1:p.Pro865ThrfsTer26 | |
| XM_005245006.5:c.2591dup | XP_005245063.1:p.Pro865ThrfsTer26 | |
| XM_017000744.1:c.2771dup | XP_016856233.1:p.Pro925ThrfsTer26 | |
| XM_017000745.2:c.2723dup | XP_016856234.1:p.Pro909ThrfsTer26 | |
| XM_017000746.1:c.2723dup | XP_016856235.1:p.Pro909ThrfsTer26 | |
| XM_017000748.1:c.2591dup | XP_016856237.1:p.Pro865ThrfsTer26 | |
| XM_017000749.1:c.2591dup | XP_016856238.1:p.Pro865ThrfsTer26 | |
| XM_024454305.1:c.2624dup | XP_024310073.1:p.Pro876ThrfsTer26 | |
| XM_024454306.1:c.1550dup | XP_024310074.1:p.Pro518ThrfsTer26 | |
| XR_002959801.1:n.2605dup | ||
| NM_015100.4:c.2750dup MANE Select | NP_055915.2:p.Pro918ThrfsTer26 | |
| NM_001194937.2:c.2723dup | NP_001181866.1:p.Pro909ThrfsTer26 | |
| NM_001194938.2:c.2564dup | NP_001181867.1:p.Pro856ThrfsTer26 | |
| NM_145796.4:c.2465dup | NP_665739.3:p.Pro823ThrfsTer26 |