Linked Data
ClinVar Variation Id:
526656
ClinVar RCV Id:
RCV000631235
dbSNP Id:
rs1555285380
gnomAD v4:
13-51941187-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941190del , CM000675.2:g.51941190del | GRCh38 |
| NC_000013.10:g.52515326del , CM000675.1:g.52515326del | GRCh37 |
| NC_000013.9:g.51413327del | NCBI36 |
| NG_008806.1:g.75307del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1099del | ENSP00000489512.2:n.*1099del | |
| ENST00000673864.2:c.*2193del | ENSP00000501045.2:n.*2193del | |
| ENST00000674147.2:c.2828del | ENSP00000500964.2:p.Asn943ThrfsTer5 | |
| ENST00000242839.10:c.3449del MANE Select | ENSP00000242839.5:p.Asn1150ThrfsTer5 | |
| ENST00000344297.9:c.2828del | ENSP00000342559.5:p.Asn943ThrfsTer5 | |
| ENST00000400366.6:c.3116del | ENSP00000383217.3:p.Asn1039ThrfsTer5 | |
| ENST00000448424.7:c.3197del | ENSP00000416738.3:p.Asn1066ThrfsTer5 | |
| ENST00000673772.1:c.3215del | ENSP00000501168.1:p.Asn1072ThrfsTer5 | |
| ENST00000673867.1:n.3588del | ||
| ENST00000674126.1:n.3812del | ||
| ENST00000674147.1:c.2384del | ENSP00000500964.1:p.Asn795ThrfsTer5 | |
| ENST00000242839.8:c.3449del | ENSP00000242839.4:p.Asn1150ThrfsTer5 | |
| ENST00000344297.8:c.2828del | ENSP00000342559.5:p.Asn943ThrfsTer5 | |
| ENST00000400366.5:c.3116del | ENSP00000383217.3:p.Asn1039ThrfsTer5 | |
| ENST00000400370.8:c.2159del | ENSP00000383221.3:p.Asn720ThrfsTer5 | |
| ENST00000418097.7:c.3254del | ENSP00000393343.2:p.Asn1085ThrfsTer5 | |
| ENST00000448424.6:c.3215del | ENSP00000416738.2:p.Asn1072ThrfsTer5 | |
| ENST00000634296.1:c.1227del | ||
| ENST00000634308.1:c.*550del | ENSP00000489234.1:n.*550del | |
| ENST00000634620.1:n.4193del | ||
| ENST00000634810.1:n.2794del | ||
| ENST00000634844.1:c.3305del | ENSP00000489398.1:p.Asn1102ThrfsTer5 | |
| NM_000053.3:c.3449del | NP_000044.2:p.Asn1150ThrfsTer5 | |
| NM_001005918.2:c.2828del | NP_001005918.1:p.Asn943ThrfsTer5 | |
| NM_001243182.1:c.3116del | NP_001230111.1:p.Asn1039ThrfsTer5 | |
| XM_005266423.2:c.3353del | XP_005266480.1:p.Asn1118ThrfsTer5 | |
| XM_005266424.3:c.3353del | XP_005266481.1:p.Asn1118ThrfsTer5 | |
| XM_005266427.2:c.3215del | XP_005266484.1:p.Asn1072ThrfsTer5 | |
| XM_005266428.1:c.3197del | XP_005266485.1:p.Asn1066ThrfsTer5 | |
| XM_005266430.3:c.3449del | XP_005266487.1:p.Asn1150ThrfsTer5 | |
| XM_005266431.2:c.3413del | XP_005266488.1:p.Asn1138ThrfsTer5 | |
| XM_005266432.2:c.2963del | XP_005266489.1:p.Asn988ThrfsTer5 | |
| XM_006719837.2:c.3353del | XP_006719900.1:p.Asn1118ThrfsTer5 | |
| XM_006719838.1:c.1265del | XP_006719901.1:p.Asn422ThrfsTer5 | |
| XM_006719839.1:c.1082del | XP_006719902.1:p.Asn361ThrfsTer5 | |
| XM_011535117.1:c.3353del | XP_011533419.1:p.Asn1118ThrfsTer5 | |
| XM_011535118.1:c.3314del | XP_011533420.1:p.Asn1105ThrfsTer5 | |
| XM_011535119.1:c.3266del | XP_011533421.1:p.Asn1089ThrfsTer5 | |
| XM_011535120.1:c.3035del | XP_011533422.1:p.Asn1012ThrfsTer5 | |
| XM_011535121.1:c.2936del | XP_011533423.1:p.Asn979ThrfsTer5 | |
| XM_011535122.1:c.2117del | XP_011533424.1:p.Asn706ThrfsTer5 | |
| XR_941601.1:n.3668del | ||
| XR_941602.1:n.3668del | ||
| XR_941603.1:n.3668del | ||
| XR_941604.1:n.3668del | ||
| NM_001330578.1:c.3215del | NP_001317507.1:p.Asn1072ThrfsTer5 | |
| NM_001330579.1:c.3197del | NP_001317508.1:p.Asn1066ThrfsTer5 | |
| XM_005266424.4:c.3353del | XP_005266481.1:p.Asn1118ThrfsTer5 | |
| XM_005266430.4:c.3449del | XP_005266487.1:p.Asn1150ThrfsTer5 | |
| XM_005266431.4:c.3413del | XP_005266488.1:p.Asn1138ThrfsTer5 | |
| XM_006719837.3:c.3353del | XP_006719900.1:p.Asn1118ThrfsTer5 | |
| XM_011535117.3:c.3353del | XP_011533419.1:p.Asn1118ThrfsTer5 | |
| XM_017020627.1:c.3353del | XP_016876116.1:p.Asn1118ThrfsTer5 | |
| NM_000053.4:c.3449del MANE Select | NP_000044.2:p.Asn1150ThrfsTer5 | |
| NM_001005918.3:c.2828del | NP_001005918.1:p.Asn943ThrfsTer5 | |
| NM_001330579.2:c.3197del | NP_001317508.1:p.Asn1066ThrfsTer5 | |
| NM_001243182.2:c.3116del | NP_001230111.1:p.Asn1039ThrfsTer5 | |
| NM_001330578.2:c.3215del | NP_001317507.1:p.Asn1072ThrfsTer5 |