Linked Data
ClinVar Variation Id:
371656
ClinVar RCV Id:
RCV000412377
dbSNP Id:
rs1057517444
gnomAD v4:
13-51970691-AGTTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51970693_51970696del , CM000675.2:g.51970693_51970696del | GRCh38 |
| NC_000013.10:g.52544829_52544832del , CM000675.1:g.52544829_52544832del | GRCh37 |
| NC_000013.9:g.51442830_51442833del | NCBI36 |
| NG_008806.1:g.45800_45803del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.1340_1343del | ENSP00000489512.2:p.Gln447LeufsTer? | |
| ENST00000673864.2:c.*84_*87del | ENSP00000501045.2:n.*84_*87del | |
| ENST00000674147.2:c.1340_1343del | ENSP00000500964.2:p.Gln447LeufsTer? | |
| ENST00000242839.10:c.1340_1343del MANE Select | ENSP00000242839.5:p.Gln447LeufsTer? | |
| ENST00000344297.9:c.1340_1343del | ENSP00000342559.5:p.Gln447LeufsTer? | |
| ENST00000400366.6:c.1007_1010del | ENSP00000383217.3:p.Gln336LeufsTer? | |
| ENST00000448424.7:c.1340_1343del | ENSP00000416738.3:p.Gln447LeufsTer? | |
| ENST00000483772.2:n.96_99del | ||
| ENST00000673772.1:c.1340_1343del | ENSP00000501168.1:p.Gln447LeufsTer? | |
| ENST00000673789.1:n.296_299del | ||
| ENST00000673864.1:c.534_537del | ENSP00000501045.1:n.534_537del | |
| ENST00000674078.1:n.1441_1444del | ||
| ENST00000674147.1:c.896_899del | ENSP00000500964.1:p.Gln299LeufsTer? | |
| ENST00000242839.8:c.1340_1343del | ENSP00000242839.4:p.Gln447LeufsTer? | |
| ENST00000344297.8:c.1340_1343del | ENSP00000342559.5:p.Gln447LeufsTer? | |
| ENST00000400366.5:c.1007_1010del | ENSP00000383217.3:p.Gln336LeufsTer? | |
| ENST00000400370.8:c.1285+3240_1285+3243del | ENSP00000383221.3:n.1285+3240_1285+3243de... | |
| ENST00000418097.7:c.1340_1343del | ENSP00000393343.2:p.Gln447LeufsTer? | |
| ENST00000448424.6:c.1340_1343del | ENSP00000416738.2:p.Gln447LeufsTer? | |
| ENST00000482841.6:n.1461_1464del | ||
| ENST00000483772.1:n.96_99del | ||
| ENST00000634308.1:c.1340_1343del | ENSP00000489234.1:p.Gln447LeufsTer? | |
| ENST00000634844.1:c.1340_1343del | ENSP00000489398.1:p.Gln447LeufsTer? | |
| ENST00000635406.1:n.212-24217_212-24214del | ||
| NM_000053.3:c.1340_1343del | NP_000044.2:p.Gln447LeufsTer? | |
| NM_001005918.2:c.1340_1343del | NP_001005918.1:p.Gln447LeufsTer? | |
| NM_001243182.1:c.1007_1010del | NP_001230111.1:p.Gln336LeufsTer? | |
| XM_005266423.2:c.1244_1247del | XP_005266480.1:p.Gln415LeufsTer? | |
| XM_005266424.3:c.1244_1247del | XP_005266481.1:p.Gln415LeufsTer? | |
| XM_005266427.2:c.1340_1343del | XP_005266484.1:p.Gln447LeufsTer? | |
| XM_005266428.1:c.1340_1343del | XP_005266485.1:p.Gln447LeufsTer? | |
| XM_005266430.3:c.1340_1343del | XP_005266487.1:p.Gln447LeufsTer? | |
| XM_005266431.2:c.1304_1307del | XP_005266488.1:p.Gln435LeufsTer? | |
| XM_005266432.2:c.1340_1343del | XP_005266489.1:p.Gln447LeufsTer? | |
| XM_006719837.2:c.1244_1247del | XP_006719900.1:p.Gln415LeufsTer? | |
| XM_011535117.1:c.1244_1247del | XP_011533419.1:p.Gln415LeufsTer? | |
| XM_011535118.1:c.1340_1343del | XP_011533420.1:p.Gln447LeufsTer? | |
| XM_011535119.1:c.1340_1343del | XP_011533421.1:p.Gln447LeufsTer? | |
| XM_011535120.1:c.1340_1343del | XP_011533422.1:p.Gln447LeufsTer? | |
| XM_011535121.1:c.1340_1343del | XP_011533423.1:p.Gln447LeufsTer? | |
| XM_011535122.1:c.8_11del | XP_011533424.1:p.Gln3LeufsTer? | |
| XR_941601.1:n.1559_1562del | ||
| XR_941602.1:n.1559_1562del | ||
| XR_941603.1:n.1559_1562del | ||
| XR_941604.1:n.1559_1562del | ||
| NM_001330578.1:c.1340_1343del | NP_001317507.1:p.Gln447LeufsTer? | |
| NM_001330579.1:c.1340_1343del | NP_001317508.1:p.Gln447LeufsTer? | |
| XM_005266424.4:c.1244_1247del | XP_005266481.1:p.Gln415LeufsTer? | |
| XM_005266430.4:c.1340_1343del | XP_005266487.1:p.Gln447LeufsTer? | |
| XM_005266431.4:c.1304_1307del | XP_005266488.1:p.Gln435LeufsTer? | |
| XM_006719837.3:c.1244_1247del | XP_006719900.1:p.Gln415LeufsTer? | |
| XM_011535117.3:c.1244_1247del | XP_011533419.1:p.Gln415LeufsTer? | |
| XM_017020627.1:c.1244_1247del | XP_016876116.1:p.Gln415LeufsTer? | |
| NM_000053.4:c.1340_1343del MANE Select | NP_000044.2:p.Gln447LeufsTer? | |
| NM_001005918.3:c.1340_1343del | NP_001005918.1:p.Gln447LeufsTer? | |
| NM_001330579.2:c.1340_1343del | NP_001317508.1:p.Gln447LeufsTer? | |
| NM_001243182.2:c.1007_1010del | NP_001230111.1:p.Gln336LeufsTer? | |
| NM_001330578.2:c.1340_1343del | NP_001317507.1:p.Gln447LeufsTer? |