Linked Data
ClinVar Variation Id:
419188
dbSNP Id:
rs754367349
ExAC:
17:56787287 GT / G
gnomAD v2:
17-56787287-GT-G
gnomAD v4:
17-58709926-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58709927del , CM000679.2:g.58709927del | GRCh38 |
| NC_000017.10:g.56787288del , CM000679.1:g.56787288del | GRCh37 |
| NC_000017.9:g.54142287del | NCBI36 |
| NG_023199.1:g.22326del , LRG_314:g.22326del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461271.6:c.423del | ENSP00000464056.2:p.Thr142LeufsTer4 | |
| ENST00000697678.1:n.676del | ||
| ENST00000697679.1:n.1848del | ||
| ENST00000697680.1:c.*1638del | ENSP00000513392.1:n.*1638del | |
| ENST00000697681.1:c.*1935del | ENSP00000513393.1:n.*1935del | |
| ENST00000697683.1:c.*1638del | ENSP00000513395.1:n.*1638del | |
| ENST00000697684.1:n.834del | ||
| ENST00000697685.1:c.*1471del | ENSP00000513396.1:n.*1471del | |
| ENST00000697686.1:c.423del | ENSP00000513397.1:p.Thr142LeufsTer4 | |
| ENST00000697687.1:n.653del | ||
| ENST00000697688.1:n.820del | ||
| ENST00000697689.1:c.*1310del | ENSP00000513398.1:n.*1310del | |
| ENST00000697690.1:c.774del | ENSP00000513399.1:p.Thr259LeufsTer4 | |
| ENST00000697691.1:c.*746del | ENSP00000513400.1:n.*746del | |
| ENST00000697692.1:c.*786del | ENSP00000513401.1:n.*786del | |
| ENST00000697694.1:c.423del | ENSP00000513402.1:p.Thr142LeufsTer4 | |
| ENST00000697695.1:n.1381del | ||
| ENST00000337432.9:c.774del MANE Select | ENSP00000336701.4:p.Thr259LeufsTer4 | |
| ENST00000337432.8:c.774del | ENSP00000336701.4:p.Thr259LeufsTer4 | |
| ENST00000413590.5:c.412del | ||
| ENST00000475762.5:c.*1477del | ENSP00000432421.1:n.*1477del | |
| ENST00000482007.5:c.*202del | ENSP00000433332.1:n.*202del | |
| ENST00000487525.5:c.*347del | ENSP00000431637.1:n.*347del | |
| ENST00000578151.1:n.109del | ||
| ENST00000581221.5:n.289del | ||
| ENST00000583539.5:c.774del | ENSP00000463121.1:p.Thr259LeufsTer4 | |
| ENST00000584617.5:c.496del | ||
| ENST00000584804.1:c.69del | ENSP00000463658.1:p.Thr24LeufsTer4 | |
| NM_058216.2:c.774del | NP_478123.1:p.Thr259LeufsTer4 | |
| NR_103872.1:n.678del | ||
| XM_006722001.2:c.774del | XP_006722064.1:p.Thr259LeufsTer4 | |
| XM_006722002.2:c.774del | XP_006722065.1:p.Thr259LeufsTer4 | |
| XM_006722004.2:c.423del | XP_006722067.1:p.Thr142LeufsTer4 | |
| XM_006722005.2:c.423del | XP_006722068.1:p.Thr142LeufsTer4 | |
| XM_011525092.1:c.423del | XP_011523394.1:p.Thr142LeufsTer4 | |
| XM_011525093.1:c.423del | XP_011523395.1:p.Thr142LeufsTer4 | |
| XM_011525094.1:c.423del | XP_011523396.1:p.Thr142LeufsTer4 | |
| XR_934513.1:n.992del | ||
| XR_934514.1:n.992del | ||
| XM_006722001.4:c.774del | XP_006722064.1:p.Thr259LeufsTer4 | |
| XM_006722002.4:c.774del | XP_006722065.1:p.Thr259LeufsTer4 | |
| XM_006722004.3:c.423del | XP_006722067.1:p.Thr142LeufsTer4 | |
| XM_006722005.3:c.423del | XP_006722068.1:p.Thr142LeufsTer4 | |
| XM_011525092.2:c.423del | XP_011523394.1:p.Thr142LeufsTer4 | |
| XM_011525093.2:c.423del | XP_011523395.1:p.Thr142LeufsTer4 | |
| XM_011525094.2:c.423del | XP_011523396.1:p.Thr142LeufsTer4 | |
| XM_017024914.1:c.423del | XP_016880403.1:p.Thr142LeufsTer4 | |
| XM_017024915.1:c.423del | XP_016880404.1:p.Thr142LeufsTer4 | |
| XM_017024916.1:c.423del | XP_016880405.1:p.Thr142LeufsTer4 | |
| XM_017024917.1:c.423del | XP_016880406.1:p.Thr142LeufsTer4 | |
| XM_017024918.2:c.423del | XP_016880407.1:p.Thr142LeufsTer4 | |
| XM_017024919.1:c.423del | XP_016880408.1:p.Thr142LeufsTer4 | |
| XR_934513.3:n.1423del | ||
| XR_934514.3:n.1423del | ||
| NM_058216.3:c.774del MANE Select | NP_478123.1:p.Thr259LeufsTer4 | |
| NR_103872.2:n.649del |