Linked Data
ClinVar Variation Id:
189108
ClinVar RCV Id:
RCV000169520
dbSNP Id:
rs748924063
ExAC:
13:52515220 C / CA
gnomAD v2:
13-52515220-C-CA
gnomAD v3:
13-51941084-C-CA
gnomAD v4:
13-51941084-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941086dup , CM000675.2:g.51941086dup | GRCh38 |
| NC_000013.10:g.52515222dup , CM000675.1:g.52515222dup | GRCh37 |
| NC_000013.9:g.51413223dup | NCBI36 |
| NG_008806.1:g.75410dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1202dup | ENSP00000489512.2:n.*1202dup | |
| ENST00000673864.2:c.*2296dup | ENSP00000501045.2:n.*2296dup | |
| ENST00000674147.2:c.2931dup | ENSP00000500964.2:p.Asp978Ter | |
| ENST00000242839.10:c.3552dup MANE Select | ENSP00000242839.5:p.Asp1185Ter | |
| ENST00000344297.9:c.2931dup | ENSP00000342559.5:p.Asp978Ter | |
| ENST00000400366.6:c.3219dup | ENSP00000383217.3:p.Asp1074Ter | |
| ENST00000448424.7:c.3300dup | ENSP00000416738.3:p.Asp1101Ter | |
| ENST00000673772.1:c.3318dup | ENSP00000501168.1:p.Asp1107Ter | |
| ENST00000673867.1:n.3691dup | ||
| ENST00000674126.1:n.3915dup | ||
| ENST00000674147.1:c.2487dup | ENSP00000500964.1:p.Asp830Ter | |
| ENST00000242839.8:c.3552dup | ENSP00000242839.4:p.Asp1185Ter | |
| ENST00000344297.8:c.2931dup | ENSP00000342559.5:p.Asp978Ter | |
| ENST00000400366.5:c.3219dup | ENSP00000383217.3:p.Asp1074Ter | |
| ENST00000400370.8:c.2262dup | ENSP00000383221.3:p.Asp755Ter | |
| ENST00000418097.7:c.3357dup | ENSP00000393343.2:p.Asp1120Ter | |
| ENST00000448424.6:c.3318dup | ENSP00000416738.2:p.Asp1107Ter | |
| ENST00000634296.1:c.1330dup | ||
| ENST00000634308.1:c.*653dup | ENSP00000489234.1:n.*653dup | |
| ENST00000634620.1:n.4296dup | ||
| ENST00000634810.1:n.2897dup | ||
| ENST00000634844.1:c.3408dup | ENSP00000489398.1:p.Asp1137Ter | |
| NM_000053.3:c.3552dup | NP_000044.2:p.Asp1185Ter | |
| NM_001005918.2:c.2931dup | NP_001005918.1:p.Asp978Ter | |
| NM_001243182.1:c.3219dup | NP_001230111.1:p.Asp1074Ter | |
| XM_005266423.2:c.3456dup | XP_005266480.1:p.Asp1153Ter | |
| XM_005266424.3:c.3456dup | XP_005266481.1:p.Asp1153Ter | |
| XM_005266427.2:c.3318dup | XP_005266484.1:p.Asp1107Ter | |
| XM_005266428.1:c.3300dup | XP_005266485.1:p.Asp1101Ter | |
| XM_005266430.3:c.3552dup | XP_005266487.1:p.Asp1185Ter | |
| XM_005266431.2:c.3516dup | XP_005266488.1:p.Asp1173Ter | |
| XM_005266432.2:c.3066dup | XP_005266489.1:p.Asp1023Ter | |
| XM_006719837.2:c.3456dup | XP_006719900.1:p.Asp1153Ter | |
| XM_006719838.1:c.1368dup | XP_006719901.1:p.Asp457Ter | |
| XM_006719839.1:c.1185dup | XP_006719902.1:p.Asp396Ter | |
| XM_011535117.1:c.3456dup | XP_011533419.1:p.Asp1153Ter | |
| XM_011535118.1:c.3417dup | XP_011533420.1:p.Asp1140Ter | |
| XM_011535119.1:c.3369dup | XP_011533421.1:p.Asp1124Ter | |
| XM_011535120.1:c.3138dup | XP_011533422.1:p.Asp1047Ter | |
| XM_011535121.1:c.3039dup | XP_011533423.1:p.Asp1014Ter | |
| XM_011535122.1:c.2220dup | XP_011533424.1:p.Asp741Ter | |
| XR_941601.1:n.3771dup | ||
| XR_941602.1:n.3771dup | ||
| XR_941603.1:n.3771dup | ||
| XR_941604.1:n.3771dup | ||
| NM_001330578.1:c.3318dup | NP_001317507.1:p.Asp1107Ter | |
| NM_001330579.1:c.3300dup | NP_001317508.1:p.Asp1101Ter | |
| XM_005266424.4:c.3456dup | XP_005266481.1:p.Asp1153Ter | |
| XM_005266430.4:c.3552dup | XP_005266487.1:p.Asp1185Ter | |
| XM_005266431.4:c.3516dup | XP_005266488.1:p.Asp1173Ter | |
| XM_006719837.3:c.3456dup | XP_006719900.1:p.Asp1153Ter | |
| XM_011535117.3:c.3456dup | XP_011533419.1:p.Asp1153Ter | |
| XM_017020627.1:c.3456dup | XP_016876116.1:p.Asp1153Ter | |
| NM_000053.4:c.3552dup MANE Select | NP_000044.2:p.Asp1185Ter | |
| NM_001005918.3:c.2931dup | NP_001005918.1:p.Asp978Ter | |
| NM_001330579.2:c.3300dup | NP_001317508.1:p.Asp1101Ter | |
| NM_001243182.2:c.3219dup | NP_001230111.1:p.Asp1074Ter | |
| NM_001330578.2:c.3318dup | NP_001317507.1:p.Asp1107Ter |