Linked Data
dbSNP Id:
rs1452718146
MyVariant Identifiers:
chr13:g.52524227_52524228insGAG (hg19)
chr13:g.51950091_51950092insGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51950092_51950094dup , CM000675.2:g.51950092_51950094dup | GRCh38 |
| NC_000013.10:g.52524228_52524230dup , CM000675.1:g.52524228_52524230dup | GRCh37 |
| NC_000013.9:g.51422229_51422231dup | NCBI36 |
| NG_008806.1:g.66401_66403dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*476_*478dup | ENSP00000489512.2:n.*476_*478dup | |
| ENST00000673864.2:c.*1387_*1389dup | ENSP00000501045.2:n.*1387_*1389dup | |
| ENST00000674147.2:c.2157_2159dup | ENSP00000500964.2:p.Ser720_Val721insSer | |
| ENST00000242839.10:c.2643_2645dup MANE Select | ENSP00000242839.5:p.Ser882_Val883insSer | |
| ENST00000344297.9:c.2157_2159dup | ENSP00000342559.5:p.Ser720_Val721insSer | |
| ENST00000400366.6:c.2310_2312dup | ENSP00000383217.3:p.Ser771_Val772insSer | |
| ENST00000448424.7:c.2391_2393dup | ENSP00000416738.3:p.Ser798_Val799insSer | |
| ENST00000673772.1:c.2409_2411dup | ENSP00000501168.1:p.Ser804_Val805insSer | |
| ENST00000674147.1:c.1713_1715dup | ENSP00000500964.1:p.Ser572_Val573insSer | |
| ENST00000242839.8:c.2643_2645dup | ENSP00000242839.4:p.Ser882_Val883insSer | |
| ENST00000344297.8:c.2157_2159dup | ENSP00000342559.5:p.Ser720_Val721insSer | |
| ENST00000400366.5:c.2310_2312dup | ENSP00000383217.3:p.Ser771_Val772insSer | |
| ENST00000400370.8:c.1353_1355dup | ENSP00000383221.3:p.Ser452_Val453insSer | |
| ENST00000418097.7:c.2643_2645dup | ENSP00000393343.2:p.Ser882_Val883insSer | |
| ENST00000448424.6:c.2409_2411dup | ENSP00000416738.2:p.Ser804_Val805insSer | |
| ENST00000634296.1:c.604_606dup | ||
| ENST00000634308.1:c.2409_2411dup | ENSP00000489234.1:p.Ser804_Val805insSer | |
| ENST00000634620.1:n.3441_3443dup | ||
| ENST00000634810.1:n.1988_1990dup | ||
| ENST00000634844.1:c.2499_2501dup | ENSP00000489398.1:p.Ser834_Val835insSer | |
| ENST00000635406.1:n.212-3616_212-3614dup | ||
| NM_000053.3:c.2643_2645dup | NP_000044.2:p.Ser882_Val883insSer | |
| NM_001005918.2:c.2157_2159dup | NP_001005918.1:p.Ser720_Val721insSer | |
| NM_001243182.1:c.2310_2312dup | NP_001230111.1:p.Ser771_Val772insSer | |
| XM_005266423.2:c.2547_2549dup | XP_005266480.1:p.Ser850_Val851insSer | |
| XM_005266424.3:c.2547_2549dup | XP_005266481.1:p.Ser850_Val851insSer | |
| XM_005266427.2:c.2409_2411dup | XP_005266484.1:p.Ser804_Val805insSer | |
| XM_005266428.1:c.2391_2393dup | XP_005266485.1:p.Ser798_Val799insSer | |
| XM_005266430.3:c.2643_2645dup | XP_005266487.1:p.Ser882_Val883insSer | |
| XM_005266431.2:c.2607_2609dup | XP_005266488.1:p.Ser870_Val871insSer | |
| XM_005266432.2:c.2157_2159dup | XP_005266489.1:p.Ser720_Val721insSer | |
| XM_006719837.2:c.2547_2549dup | XP_006719900.1:p.Ser850_Val851insSer | |
| XM_006719838.1:c.459_461dup | XP_006719901.1:p.Ser154_Val155insSer | |
| XM_006719839.1:c.459_461dup | XP_006719902.1:p.Ser154_Val155insSer | |
| XM_011535117.1:c.2547_2549dup | XP_011533419.1:p.Ser850_Val851insSer | |
| XM_011535118.1:c.2643_2645dup | XP_011533420.1:p.Ser882_Val883insSer | |
| XM_011535119.1:c.2643_2645dup | XP_011533421.1:p.Ser882_Val883insSer | |
| XM_011535120.1:c.2229_2231dup | XP_011533422.1:p.Ser744_Val745insSer | |
| XM_011535121.1:c.2643_2645dup | XP_011533423.1:p.Ser882_Val883insSer | |
| XM_011535122.1:c.1311_1313dup | XP_011533424.1:p.Ser438_Val439insSer | |
| XR_941601.1:n.2862_2864dup | ||
| XR_941602.1:n.2862_2864dup | ||
| XR_941603.1:n.2862_2864dup | ||
| XR_941604.1:n.2862_2864dup | ||
| NM_001330578.1:c.2409_2411dup | NP_001317507.1:p.Ser804_Val805insSer | |
| NM_001330579.1:c.2391_2393dup | NP_001317508.1:p.Ser798_Val799insSer | |
| XM_005266424.4:c.2547_2549dup | XP_005266481.1:p.Ser850_Val851insSer | |
| XM_005266430.4:c.2643_2645dup | XP_005266487.1:p.Ser882_Val883insSer | |
| XM_005266431.4:c.2607_2609dup | XP_005266488.1:p.Ser870_Val871insSer | |
| XM_006719837.3:c.2547_2549dup | XP_006719900.1:p.Ser850_Val851insSer | |
| XM_011535117.3:c.2547_2549dup | XP_011533419.1:p.Ser850_Val851insSer | |
| XM_017020627.1:c.2547_2549dup | XP_016876116.1:p.Ser850_Val851insSer | |
| NM_000053.4:c.2643_2645dup MANE Select | NP_000044.2:p.Ser882_Val883insSer | |
| NM_001005918.3:c.2157_2159dup | NP_001005918.1:p.Ser720_Val721insSer | |
| NM_001330579.2:c.2391_2393dup | NP_001317508.1:p.Ser798_Val799insSer | |
| NM_001243182.2:c.2310_2312dup | NP_001230111.1:p.Ser771_Val772insSer | |
| NM_001330578.2:c.2409_2411dup | NP_001317507.1:p.Ser804_Val805insSer |