Linked Data
ClinVar Variation Id:
1453526
ClinVar RCV Id:
RCV002037931
dbSNP Id:
rs1957668488
gnomAD v3:
13-51946472-TG-T
gnomAD v4:
13-51946472-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51946476del , CM000675.2:g.51946476del | GRCh38 |
| NC_000013.10:g.52520612del , CM000675.1:g.52520612del | GRCh37 |
| NC_000013.9:g.51418613del | NCBI36 |
| NG_008806.1:g.70022del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*704del | ENSP00000489512.2:n.*704del | |
| ENST00000673864.2:c.*1615del | ENSP00000501045.2:n.*1615del | |
| ENST00000674147.2:c.2250del | ENSP00000500964.2:p.Asn751ThrfsTer9 | |
| ENST00000242839.10:c.2871del MANE Select | ENSP00000242839.5:p.Asn958ThrfsTer9 | |
| ENST00000344297.9:c.2250del | ENSP00000342559.5:p.Asn751ThrfsTer9 | |
| ENST00000400366.6:c.2538del | ENSP00000383217.3:p.Asn847ThrfsTer9 | |
| ENST00000448424.7:c.2619del | ENSP00000416738.3:p.Asn874ThrfsTer9 | |
| ENST00000673772.1:c.2637del | ENSP00000501168.1:p.Asn880ThrfsTer9 | |
| ENST00000673867.1:n.1018del | ||
| ENST00000674126.1:n.3234del | ||
| ENST00000674147.1:c.1806del | ENSP00000500964.1:p.Asn603ThrfsTer9 | |
| ENST00000242839.8:c.2871del | ENSP00000242839.4:p.Asn958ThrfsTer9 | |
| ENST00000344297.8:c.2250del | ENSP00000342559.5:p.Asn751ThrfsTer9 | |
| ENST00000400366.5:c.2538del | ENSP00000383217.3:p.Asn847ThrfsTer9 | |
| ENST00000400370.8:c.1581del | ENSP00000383221.3:p.Asn528ThrfsTer9 | |
| ENST00000418097.7:c.2866-2182del | ENSP00000393343.2:n.2866-2182del | |
| ENST00000448424.6:c.2637del | ENSP00000416738.2:p.Asn880ThrfsTer9 | |
| ENST00000466629.1:n.91del | ||
| ENST00000634296.1:c.832del | ||
| ENST00000634308.1:c.2657del | ENSP00000489234.1:p.Pro886GlnfsTer? | |
| ENST00000634620.1:n.3615del | ||
| ENST00000634810.1:n.2216del | ||
| ENST00000634844.1:c.2727del | ENSP00000489398.1:p.Asn910ThrfsTer9 | |
| ENST00000635406.1:n.217del | ||
| NM_000053.3:c.2871del | NP_000044.2:p.Asn958ThrfsTer9 | |
| NM_001005918.2:c.2250del | NP_001005918.1:p.Asn751ThrfsTer9 | |
| NM_001243182.1:c.2538del | NP_001230111.1:p.Asn847ThrfsTer9 | |
| XM_005266423.2:c.2775del | XP_005266480.1:p.Asn926ThrfsTer9 | |
| XM_005266424.3:c.2775del | XP_005266481.1:p.Asn926ThrfsTer9 | |
| XM_005266427.2:c.2637del | XP_005266484.1:p.Asn880ThrfsTer9 | |
| XM_005266428.1:c.2619del | XP_005266485.1:p.Asn874ThrfsTer9 | |
| XM_005266430.3:c.2871del | XP_005266487.1:p.Asn958ThrfsTer9 | |
| XM_005266431.2:c.2835del | XP_005266488.1:p.Asn946ThrfsTer9 | |
| XM_005266432.2:c.2385del | XP_005266489.1:p.Asn796ThrfsTer9 | |
| XM_006719837.2:c.2775del | XP_006719900.1:p.Asn926ThrfsTer9 | |
| XM_006719838.1:c.687del | XP_006719901.1:p.Asn230ThrfsTer9 | |
| XM_006719839.1:c.687del | XP_006719902.1:p.Asn230ThrfsTer9 | |
| XM_011535117.1:c.2775del | XP_011533419.1:p.Asn926ThrfsTer9 | |
| XM_011535118.1:c.2736del | XP_011533420.1:p.Asn913ThrfsTer9 | |
| XM_011535119.1:c.2871del | XP_011533421.1:p.Asn958ThrfsTer9 | |
| XM_011535120.1:c.2457del | XP_011533422.1:p.Asn820ThrfsTer9 | |
| XM_011535121.1:c.2730+3534del | XP_011533423.1:n.2730+3534del | |
| XM_011535122.1:c.1539del | XP_011533424.1:p.Asn514ThrfsTer9 | |
| XR_941601.1:n.3090del | ||
| XR_941602.1:n.3090del | ||
| XR_941603.1:n.3090del | ||
| XR_941604.1:n.3090del | ||
| NM_001330578.1:c.2637del | NP_001317507.1:p.Asn880ThrfsTer9 | |
| NM_001330579.1:c.2619del | NP_001317508.1:p.Asn874ThrfsTer9 | |
| XM_005266424.4:c.2775del | XP_005266481.1:p.Asn926ThrfsTer9 | |
| XM_005266430.4:c.2871del | XP_005266487.1:p.Asn958ThrfsTer9 | |
| XM_005266431.4:c.2835del | XP_005266488.1:p.Asn946ThrfsTer9 | |
| XM_006719837.3:c.2775del | XP_006719900.1:p.Asn926ThrfsTer9 | |
| XM_011535117.3:c.2775del | XP_011533419.1:p.Asn926ThrfsTer9 | |
| XM_017020627.1:c.2775del | XP_016876116.1:p.Asn926ThrfsTer9 | |
| NM_000053.4:c.2871del MANE Select | NP_000044.2:p.Asn958ThrfsTer9 | |
| NM_001005918.3:c.2250del | NP_001005918.1:p.Asn751ThrfsTer9 | |
| NM_001330579.2:c.2619del | NP_001317508.1:p.Asn874ThrfsTer9 | |
| NM_001243182.2:c.2538del | NP_001230111.1:p.Asn847ThrfsTer9 | |
| NM_001330578.2:c.2637del | NP_001317507.1:p.Asn880ThrfsTer9 |