Linked Data
ClinVar Variation Id:
295575
ClinVar RCV Id:
RCV000370743
dbSNP Id:
rs59755757
gnomAD v2:
1-220087662-TG-T
gnomAD v3:
1-219914320-TG-T
gnomAD v4:
1-219914320-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219914322del , CM000663.2:g.219914322del | GRCh38 |
| NC_000001.10:g.220087664del , CM000663.1:g.220087664del | GRCh37 |
| NC_000001.9:g.218154287del | NCBI36 |
| NG_032153.1:g.19331del | |
| NG_032153.2:g.19331del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696608.1:c.2397del | ENSP00000512752.1:n.2397del | |
| ENST00000366926.4:c.*1128del MANE Select | ENSP00000355893.4:n.*1128del | |
| ENST00000356609.2:c.*1952del | ENSP00000349018.2:n.*1952del | |
| ENST00000484079.1:n.2404del | ||
| ENST00000484239.5:n.398+3934del | ||
| NM_018713.2:c.*1128del | NP_061183.2:n.*1128del | |
| NR_046437.1:n.2835del | ||
| XM_006711437.2:c.*1128del | XP_006711500.2:n.*1128del | |
| XM_011509727.1:c.*1128del | XP_011508029.1:n.*1128del | |
| XM_006711437.4:c.*1128del | XP_006711500.2:n.*1128del | |
| XM_017001684.2:c.*1128del | XP_016857173.1:n.*1128del | |
| NM_001376929.1:c.*1128del | NP_001363858.1:n.*1128del | |
| NM_018713.3:c.*1128del MANE Select | NP_061183.2:n.*1128del | |
| NR_046437.2:n.2741del | ||
| NR_165031.1:n.2478del |