Linked Data
ClinVar Variation Id:
997881
ClinVar RCV Id:
RCV001293508
dbSNP Id:
rs1566461818
gnomAD v4:
13-51941154-AATGGTTAAACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941155_51941165del , CM000675.2:g.51941155_51941165del | GRCh38 |
| NC_000013.10:g.52515291_52515301del , CM000675.1:g.52515291_52515301del | GRCh37 |
| NC_000013.9:g.51413292_51413302del | NCBI36 |
| NG_008806.1:g.75330_75340del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1122_*1132del | ENSP00000489512.2:n.*1122_*1132del | |
| ENST00000673864.2:c.*2216_*2226del | ENSP00000501045.2:n.*2216_*2226del | |
| ENST00000674147.2:c.2851_2861del | ENSP00000500964.2:p.Gly951PhefsTer2 | |
| ENST00000242839.10:c.3472_3482del MANE Select | ENSP00000242839.5:p.Gly1158PhefsTer2 | |
| ENST00000344297.9:c.2851_2861del | ENSP00000342559.5:p.Gly951PhefsTer2 | |
| ENST00000400366.6:c.3139_3149del | ENSP00000383217.3:p.Gly1047PhefsTer2 | |
| ENST00000448424.7:c.3220_3230del | ENSP00000416738.3:p.Gly1074PhefsTer2 | |
| ENST00000673772.1:c.3238_3248del | ENSP00000501168.1:p.Gly1080PhefsTer2 | |
| ENST00000673867.1:n.3611_3621del | ||
| ENST00000674126.1:n.3835_3845del | ||
| ENST00000674147.1:c.2407_2417del | ENSP00000500964.1:p.Gly803PhefsTer2 | |
| ENST00000242839.8:c.3472_3482del | ENSP00000242839.4:p.Gly1158PhefsTer2 | |
| ENST00000344297.8:c.2851_2861del | ENSP00000342559.5:p.Gly951PhefsTer2 | |
| ENST00000400366.5:c.3139_3149del | ENSP00000383217.3:p.Gly1047PhefsTer2 | |
| ENST00000400370.8:c.2182_2192del | ENSP00000383221.3:p.Gly728PhefsTer2 | |
| ENST00000418097.7:c.3277_3287del | ENSP00000393343.2:p.Gly1093PhefsTer2 | |
| ENST00000448424.6:c.3238_3248del | ENSP00000416738.2:p.Gly1080PhefsTer2 | |
| ENST00000634296.1:c.1250_1260del | ||
| ENST00000634308.1:c.*573_*583del | ENSP00000489234.1:n.*573_*583del | |
| ENST00000634620.1:n.4216_4226del | ||
| ENST00000634810.1:n.2817_2827del | ||
| ENST00000634844.1:c.3328_3338del | ENSP00000489398.1:p.Gly1110PhefsTer2 | |
| NM_000053.3:c.3472_3482del | NP_000044.2:p.Gly1158PhefsTer2 | |
| NM_001005918.2:c.2851_2861del | NP_001005918.1:p.Gly951PhefsTer2 | |
| NM_001243182.1:c.3139_3149del | NP_001230111.1:p.Gly1047PhefsTer2 | |
| XM_005266423.2:c.3376_3386del | XP_005266480.1:p.Gly1126PhefsTer2 | |
| XM_005266424.3:c.3376_3386del | XP_005266481.1:p.Gly1126PhefsTer2 | |
| XM_005266427.2:c.3238_3248del | XP_005266484.1:p.Gly1080PhefsTer2 | |
| XM_005266428.1:c.3220_3230del | XP_005266485.1:p.Gly1074PhefsTer2 | |
| XM_005266430.3:c.3472_3482del | XP_005266487.1:p.Gly1158PhefsTer2 | |
| XM_005266431.2:c.3436_3446del | XP_005266488.1:p.Gly1146PhefsTer2 | |
| XM_005266432.2:c.2986_2996del | XP_005266489.1:p.Gly996PhefsTer2 | |
| XM_006719837.2:c.3376_3386del | XP_006719900.1:p.Gly1126PhefsTer2 | |
| XM_006719838.1:c.1288_1298del | XP_006719901.1:p.Gly430PhefsTer2 | |
| XM_006719839.1:c.1105_1115del | XP_006719902.1:p.Gly369PhefsTer2 | |
| XM_011535117.1:c.3376_3386del | XP_011533419.1:p.Gly1126PhefsTer2 | |
| XM_011535118.1:c.3337_3347del | XP_011533420.1:p.Gly1113PhefsTer2 | |
| XM_011535119.1:c.3289_3299del | XP_011533421.1:p.Gly1097PhefsTer2 | |
| XM_011535120.1:c.3058_3068del | XP_011533422.1:p.Gly1020PhefsTer2 | |
| XM_011535121.1:c.2959_2969del | XP_011533423.1:p.Gly987PhefsTer2 | |
| XM_011535122.1:c.2140_2150del | XP_011533424.1:p.Gly714PhefsTer2 | |
| XR_941601.1:n.3691_3701del | ||
| XR_941602.1:n.3691_3701del | ||
| XR_941603.1:n.3691_3701del | ||
| XR_941604.1:n.3691_3701del | ||
| NM_001330578.1:c.3238_3248del | NP_001317507.1:p.Gly1080PhefsTer2 | |
| NM_001330579.1:c.3220_3230del | NP_001317508.1:p.Gly1074PhefsTer2 | |
| XM_005266424.4:c.3376_3386del | XP_005266481.1:p.Gly1126PhefsTer2 | |
| XM_005266430.4:c.3472_3482del | XP_005266487.1:p.Gly1158PhefsTer2 | |
| XM_005266431.4:c.3436_3446del | XP_005266488.1:p.Gly1146PhefsTer2 | |
| XM_006719837.3:c.3376_3386del | XP_006719900.1:p.Gly1126PhefsTer2 | |
| XM_011535117.3:c.3376_3386del | XP_011533419.1:p.Gly1126PhefsTer2 | |
| XM_017020627.1:c.3376_3386del | XP_016876116.1:p.Gly1126PhefsTer2 | |
| NM_000053.4:c.3472_3482del MANE Select | NP_000044.2:p.Gly1158PhefsTer2 | |
| NM_001005918.3:c.2851_2861del | NP_001005918.1:p.Gly951PhefsTer2 | |
| NM_001330579.2:c.3220_3230del | NP_001317508.1:p.Gly1074PhefsTer2 | |
| NM_001243182.2:c.3139_3149del | NP_001230111.1:p.Gly1047PhefsTer2 | |
| NM_001330578.2:c.3238_3248del | NP_001317507.1:p.Gly1080PhefsTer2 |