Linked Data
ClinVar Variation Id:
280536
dbSNP Id:
rs886041723
gnomAD v4:
11-18283870-CCAAA-C
PubMed:
PMID:28640947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18283873_18283876del , CM000673.2:g.18283873_18283876del | GRCh38 |
| NC_000011.9:g.18305420_18305423del , CM000673.1:g.18305420_18305423del | GRCh37 |
| NC_000011.8:g.18261996_18261999del | NCBI36 |
| NG_008877.1:g.43301_43304del , LRG_586:g.43301_43304del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349215.8:c.2979_2982del MANE Select | ENSP00000265967.5:p.Cys993TrpfsTer16 | |
| ENST00000349215.7:c.2979_2982del | ENSP00000265967.5:p.Cys993TrpfsTer16 | |
| ENST00000352460.7:n.1256_1259del | ||
| ENST00000396253.7:c.2637_2640del | ENSP00000379552.3:p.Cys879TrpfsTer16 | |
| ENST00000438420.6:c.2637_2640del | ENSP00000399590.2:p.Cys879TrpfsTer16 | |
| ENST00000537258.1:c.300_303del | ENSP00000437437.1:p.Cys100TrpfsTer16 | |
| ENST00000545561.1:n.1040_1043del | ||
| NM_007216.3:c.2637_2640del | NP_009147.3:p.Cys879TrpfsTer16 | |
| NM_181507.1:c.2979_2982del , LRG_586t1:c.2979_2982del | NP_852608.1:p.Cys993TrpfsTer16 | |
| NM_181508.1:c.2637_2640del | NP_852609.1:p.Cys879TrpfsTer16 | |
| XM_011519862.1:c.2979_2982del | XP_011518164.1:p.Cys993TrpfsTer16 | |
| XM_011519863.1:c.2979_2982del | XP_011518165.1:p.Cys993TrpfsTer16 | |
| XM_011519864.1:c.2979_2982del | XP_011518166.1:p.Cys993TrpfsTer16 | |
| XM_011519865.1:c.2868_2871del | XP_011518167.1:p.Cys956TrpfsTer16 | |
| XM_011519866.1:c.2637_2640del | XP_011518168.1:p.Cys879TrpfsTer16 | |
| XM_011519867.1:c.2637_2640del | XP_011518169.1:p.Cys879TrpfsTer16 | |
| XM_011519868.1:c.2637_2640del | XP_011518170.1:p.Cys879TrpfsTer16 | |
| XM_011519868.3:c.2637_2640del | XP_011518170.1:p.Cys879TrpfsTer16 | |
| XM_017017149.1:c.2979_2982del | XP_016872638.1:p.Cys993TrpfsTer16 | |
| XM_017017150.1:c.2979_2982del | XP_016872639.1:p.Cys993TrpfsTer16 | |
| XM_017017151.2:c.2868_2871del | XP_016872640.1:p.Cys956TrpfsTer16 | |
| XM_017017152.1:c.2868_2871del | XP_016872641.1:p.Cys956TrpfsTer16 | |
| XM_017017153.2:c.2868_2871del | XP_016872642.1:p.Cys956TrpfsTer16 | |
| XM_017017154.1:c.2637_2640del | XP_016872643.1:p.Cys879TrpfsTer16 | |
| XR_001747750.1:n.3220+1472_3220+1475del | ||
| XR_001747751.1:n.3308_3311del | ||
| XR_001747752.1:n.2976+1472_2976+1475del | ||
| XR_001747753.1:n.3093+1472_3093+1475del | ||
| XR_001747754.2:n.2645_2648del | ||
| XR_001747755.2:n.2567_2570del | ||
| XR_001747756.2:n.2640_2643del | ||
| NM_007216.4:c.2637_2640del | NP_009147.3:p.Cys879TrpfsTer16 | |
| NM_181507.2:c.2979_2982del MANE Select | NP_852608.1:p.Cys993TrpfsTer16 |