Linked Data
ClinVar Variation Id:
371337
ClinVar RCV Id:
RCV000409938
dbSNP Id:
rs1057517191
PubMed:
PMID:21454443
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51934916del , CM000675.2:g.51934916del | GRCh38 |
| NC_000013.10:g.52509052del , CM000675.1:g.52509052del | GRCh37 |
| NC_000013.9:g.51407053del | NCBI36 |
| NG_008806.1:g.81583del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1892del | ENSP00000489512.2:n.*1892del | |
| ENST00000673864.2:c.*2986del | ENSP00000501045.2:n.*2986del | |
| ENST00000674147.2:c.3621del | ENSP00000500964.2:p.Arg1208GlyfsTer19 | |
| ENST00000242839.10:c.4242del MANE Select | ENSP00000242839.5:p.Arg1415GlyfsTer19 | |
| ENST00000344297.9:c.3621del | ENSP00000342559.5:p.Arg1208GlyfsTer19 | |
| ENST00000400366.6:c.3909del | ENSP00000383217.3:p.Arg1304GlyfsTer19 | |
| ENST00000448424.7:c.3990del | ENSP00000416738.3:p.Arg1331GlyfsTer19 | |
| ENST00000673696.1:n.1565del | ||
| ENST00000673772.1:c.4008del | ENSP00000501168.1:p.Arg1337GlyfsTer19 | |
| ENST00000673867.1:n.4381del | ||
| ENST00000673923.1:n.1108del | ||
| ENST00000674147.1:c.3177del | ENSP00000500964.1:p.Arg1060GlyfsTer19 | |
| ENST00000242839.8:c.4242del | ENSP00000242839.4:p.Arg1415GlyfsTer19 | |
| ENST00000344297.8:c.3621del | ENSP00000342559.5:p.Arg1208GlyfsTer19 | |
| ENST00000400366.5:c.3909del | ENSP00000383217.3:p.Arg1304GlyfsTer19 | |
| ENST00000400370.8:c.2952del | ENSP00000383221.3:p.Arg985GlyfsTer19 | |
| ENST00000418097.7:c.4047del | ENSP00000393343.2:p.Arg1350GlyfsTer19 | |
| ENST00000448424.6:c.4008del | ENSP00000416738.2:p.Arg1337GlyfsTer19 | |
| ENST00000634296.1:c.2020del | ||
| ENST00000634308.1:c.*1343del | ENSP00000489234.1:n.*1343del | |
| ENST00000634620.1:n.4986del | ||
| ENST00000634810.1:n.3587del | ||
| ENST00000634844.1:c.4098del | ENSP00000489398.1:p.Arg1367GlyfsTer19 | |
| NM_000053.3:c.4242del | NP_000044.2:p.Arg1415GlyfsTer19 | |
| NM_001005918.2:c.3621del | NP_001005918.1:p.Arg1208GlyfsTer19 | |
| NM_001243182.1:c.3909del | NP_001230111.1:p.Arg1304GlyfsTer19 | |
| XM_005266423.2:c.4146del | XP_005266480.1:p.Arg1383GlyfsTer19 | |
| XM_005266424.3:c.4146del | XP_005266481.1:p.Arg1383GlyfsTer19 | |
| XM_005266427.2:c.4008del | XP_005266484.1:p.Arg1337GlyfsTer19 | |
| XM_005266428.1:c.3990del | XP_005266485.1:p.Arg1331GlyfsTer19 | |
| XM_005266430.3:c.4242del | XP_005266487.1:p.Arg1415GlyfsTer19 | |
| XM_005266431.2:c.4206del | XP_005266488.1:p.Arg1403GlyfsTer19 | |
| XM_005266432.2:c.3756del | XP_005266489.1:p.Arg1253GlyfsTer19 | |
| XM_006719837.2:c.4146del | XP_006719900.1:p.Arg1383GlyfsTer19 | |
| XM_006719838.1:c.2058del | XP_006719901.1:p.Arg687GlyfsTer19 | |
| XM_006719839.1:c.1875del | XP_006719902.1:p.Arg626GlyfsTer19 | |
| XM_011535117.1:c.4146del | XP_011533419.1:p.Arg1383GlyfsTer19 | |
| XM_011535118.1:c.4107del | XP_011533420.1:p.Arg1370GlyfsTer19 | |
| XM_011535119.1:c.4059del | XP_011533421.1:p.Arg1354GlyfsTer19 | |
| XM_011535120.1:c.3828del | XP_011533422.1:p.Arg1277GlyfsTer19 | |
| XM_011535121.1:c.3729del | XP_011533423.1:p.Arg1244GlyfsTer19 | |
| XM_011535122.1:c.2910del | XP_011533424.1:p.Arg971GlyfsTer19 | |
| XR_941601.1:n.4461del | ||
| XR_941602.1:n.4461del | ||
| XR_941603.1:n.4461del | ||
| XR_941604.1:n.4461del | ||
| NM_001330578.1:c.4008del | NP_001317507.1:p.Arg1337GlyfsTer19 | |
| NM_001330579.1:c.3990del | NP_001317508.1:p.Arg1331GlyfsTer19 | |
| XM_005266424.4:c.4146del | XP_005266481.1:p.Arg1383GlyfsTer19 | |
| XM_005266430.4:c.4242del | XP_005266487.1:p.Arg1415GlyfsTer19 | |
| XM_005266431.4:c.4206del | XP_005266488.1:p.Arg1403GlyfsTer19 | |
| XM_006719837.3:c.4146del | XP_006719900.1:p.Arg1383GlyfsTer19 | |
| XM_011535117.3:c.4146del | XP_011533419.1:p.Arg1383GlyfsTer19 | |
| XM_017020627.1:c.4146del | XP_016876116.1:p.Arg1383GlyfsTer19 | |
| NM_000053.4:c.4242del MANE Select | NP_000044.2:p.Arg1415GlyfsTer19 | |
| NM_001005918.3:c.3621del | NP_001005918.1:p.Arg1208GlyfsTer19 | |
| NM_001330579.2:c.3990del | NP_001317508.1:p.Arg1331GlyfsTer19 | |
| NM_001243182.2:c.3909del | NP_001230111.1:p.Arg1304GlyfsTer19 | |
| NM_001330578.2:c.4008del | NP_001317507.1:p.Arg1337GlyfsTer19 |