Linked Data
ClinVar Variation Id:
21819
ClinVar RCV Id:
RCV000021030
dbSNP Id:
rs281865105
gnomAD v3:
11-18287627-CA-C
gnomAD v4:
11-18287627-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18287631del , CM000673.2:g.18287631del | GRCh38 |
| NC_000011.9:g.18309178del , CM000673.1:g.18309178del | GRCh37 |
| NC_000011.8:g.18265754del | NCBI36 |
| NG_008877.1:g.39547del , LRG_586:g.39547del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349215.8:c.2624del MANE Select | ENSP00000265967.5:p.Leu875CysfsTer20 | |
| ENST00000349215.7:c.2624del | ENSP00000265967.5:p.Leu875CysfsTer20 | |
| ENST00000352460.7:n.1015del | ||
| ENST00000396253.7:c.2282del | ENSP00000379552.3:p.Leu761CysfsTer20 | |
| ENST00000438420.6:c.2282del | ENSP00000399590.2:p.Leu761CysfsTer20 | |
| ENST00000544218.5:c.182del | ENSP00000441781.1:p.Leu61CysfsTer20 | |
| ENST00000545561.1:n.685del | ||
| NM_007216.3:c.2282del | NP_009147.3:p.Leu761CysfsTer20 | |
| NM_181507.1:c.2624del , LRG_586t1:c.2624del | NP_852608.1:p.Leu875CysfsTer20 | |
| NM_181508.1:c.2282del | NP_852609.1:p.Leu761CysfsTer20 | |
| XM_011519862.1:c.2624del | XP_011518164.1:p.Leu875CysfsTer20 | |
| XM_011519863.1:c.2624del | XP_011518165.1:p.Leu875CysfsTer20 | |
| XM_011519864.1:c.2624del | XP_011518166.1:p.Leu875CysfsTer20 | |
| XM_011519865.1:c.2513del | XP_011518167.1:p.Leu838CysfsTer20 | |
| XM_011519866.1:c.2282del | XP_011518168.1:p.Leu761CysfsTer20 | |
| XM_011519867.1:c.2282del | XP_011518169.1:p.Leu761CysfsTer20 | |
| XM_011519868.1:c.2282del | XP_011518170.1:p.Leu761CysfsTer20 | |
| XM_011519869.1:c.2624del | XP_011518171.1:p.Leu875CysfsTer20 | |
| XM_011519870.1:c.*108del | XP_011518172.1:n.*108del | |
| XM_011519871.1:c.*108del | XP_011518173.1:n.*108del | |
| XM_011519868.3:c.2282del | XP_011518170.1:p.Leu761CysfsTer20 | |
| XM_017017149.1:c.2624del | XP_016872638.1:p.Leu875CysfsTer20 | |
| XM_017017150.1:c.2624del | XP_016872639.1:p.Leu875CysfsTer20 | |
| XM_017017151.2:c.2513del | XP_016872640.1:p.Leu838CysfsTer20 | |
| XM_017017152.1:c.2513del | XP_016872641.1:p.Leu838CysfsTer20 | |
| XM_017017153.2:c.2513del | XP_016872642.1:p.Leu838CysfsTer20 | |
| XM_017017154.1:c.2282del | XP_016872643.1:p.Leu761CysfsTer20 | |
| XR_001747750.1:n.2893del | ||
| XR_001747751.1:n.2893del | ||
| XR_001747752.1:n.2649del | ||
| XR_001747753.1:n.2766del | ||
| XR_001747754.2:n.2290del | ||
| XR_001747755.2:n.2212del | ||
| XR_001747756.2:n.2225del | ||
| NM_007216.4:c.2282del | NP_009147.3:p.Leu761CysfsTer20 | |
| NM_181507.2:c.2624del MANE Select | NP_852608.1:p.Leu875CysfsTer20 |