Linked Data
ClinVar Variation Id:
422751
ClinVar RCV Id:
RCV000487065
dbSNP Id:
rs755675508
gnomAD v2:
18-19321496-AGCGGCGGCGGCGGCG-A
gnomAD v3:
18-21741535-AGCGGCGGCGGCGGCG-A
gnomAD v4:
18-21741535-AGCGGCGGCGGCGGCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21741541_21741555del , CM000680.2:g.21741541_21741555del | GRCh38 |
| NC_000018.9:g.19321502_19321516del , CM000680.1:g.19321502_19321516del | GRCh37 |
| NC_000018.8:g.17575500_17575514del | NCBI36 |
| NG_033272.2:g.41585_41599del , LRG_759:g.41585_41599del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.-43_-29del MANE Select | ENSP00000261537.6:n.-43_-29del | |
| ENST00000261537.6:c.-43_-29del | ENSP00000261537.6:n.-43_-29del | |
| ENST00000578646.5:n.168-24231_168-24217del | ||
| NM_020774.3:c.-43_-29del , LRG_759t1:c.-43_-29del | NP_065825.1:n.-43_-29del | |
| XR_935234.1:n.749_763del | ||
| XR_935235.1:n.749_763del | ||
| XM_017025874.1:c.-43_-29del | XP_016881363.1:n.-43_-29del | |
| XM_017025875.1:c.-43_-29del | XP_016881364.1:n.-43_-29del | |
| NM_020774.4:c.-43_-29del MANE Select | NP_065825.1:n.-43_-29del |