Linked Data
ClinVar Variation Id:
220899
dbSNP Id:
rs756853672
ExAC:
17:59761005 AG / A
gnomAD v2:
17-59761005-AG-A
gnomAD v4:
17-61683644-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683646del , CM000679.2:g.61683646del | GRCh38 |
| NC_000017.10:g.59761007del , CM000679.1:g.59761007del | GRCh37 |
| NC_000017.9:g.57115789del | NCBI36 |
| NG_007409.2:g.184915del , LRG_300:g.184915del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2141del | ||
| ENST00000682453.1:c.3401del | ENSP00000506943.1:p.Pro1134LeufsTer16 | |
| ENST00000682477.1:c.*2827del | ENSP00000507075.1:n.*2827del | |
| ENST00000682589.1:n.9278del | ||
| ENST00000682755.1:c.3179del | ENSP00000507660.1:p.Pro1060LeufsTer16 | |
| ENST00000682989.1:c.*492del | ENSP00000507786.1:n.*492del | |
| ENST00000683039.1:c.3401del | ENSP00000508303.1:p.Pro1134LeufsTer16 | |
| ENST00000683235.1:c.*816del | ENSP00000507646.1:n.*816del | |
| ENST00000683535.1:n.1531del | ||
| ENST00000684584.1:c.2564del | ENSP00000508044.1:p.Pro855LeufsTer16 | |
| ENST00000684626.1:n.1647del | ||
| ENST00000684769.1:c.1591del | ENSP00000507691.1:n.1591del | |
| ENST00000259008.7:c.3401del MANE Select | ENSP00000259008.2:p.Pro1134LeufsTer16 | |
| ENST00000259008.6:c.3401del | ENSP00000259008.2:p.Pro1134LeufsTer16 | |
| NM_032043.2:c.3401del , LRG_300t1:c.3401del | NP_114432.2:p.Pro1134LeufsTer16 | |
| XM_011525332.1:c.3461del | XP_011523634.1:p.Pro1154LeufsTer16 | |
| XM_011525333.1:c.3461del | XP_011523635.1:p.Pro1154LeufsTer16 | |
| XM_011525334.1:c.3461del | XP_011523636.1:p.Pro1154LeufsTer16 | |
| XM_011525335.1:c.3401del | XP_011523637.1:p.Pro1134LeufsTer16 | |
| XM_011525336.1:c.3341del | XP_011523638.1:p.Pro1114LeufsTer16 | |
| XM_011525337.1:c.3260del | XP_011523639.1:p.Pro1087LeufsTer16 | |
| XM_011525338.1:c.2978del | XP_011523640.1:p.Pro993LeufsTer16 | |
| XM_011525332.3:c.3461del | XP_011523634.1:p.Pro1154LeufsTer16 | |
| XM_011525333.3:c.3461del | XP_011523635.1:p.Pro1154LeufsTer16 | |
| XM_011525334.2:c.3461del | XP_011523636.1:p.Pro1154LeufsTer16 | |
| XM_011525335.3:c.3401del | XP_011523637.1:p.Pro1134LeufsTer16 | |
| XM_011525336.2:c.3341del | XP_011523638.1:p.Pro1114LeufsTer16 | |
| XM_011525337.2:c.3260del | XP_011523639.1:p.Pro1087LeufsTer16 | |
| XM_011525338.2:c.2978del | XP_011523640.1:p.Pro993LeufsTer16 | |
| XM_017025200.1:c.2918del | XP_016880689.1:p.Pro973LeufsTer16 | |
| XM_017025201.1:c.2918del | XP_016880690.1:p.Pro973LeufsTer16 | |
| XM_017025202.1:c.1547del | XP_016880691.1:p.Pro516LeufsTer16 | |
| XM_017025203.1:c.1547del | XP_016880692.1:p.Pro516LeufsTer16 | |
| NM_032043.3:c.3401del MANE Select | NP_114432.2:p.Pro1134LeufsTer16 |