Linked Data
ClinVar Variation Id:
55960
dbSNP Id:
rs796943858
ExAC:
21:45194160 GGA / G
gnomAD v2:
21-45194160-GGA-G
gnomAD v3:
21-43774279-GGA-G
gnomAD v4:
21-43774279-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774284_43774285del , CM000683.2:g.43774284_43774285del | GRCh38 |
| NC_000021.8:g.45194165_45194166del , CM000683.1:g.45194165_45194166del | GRCh37 |
| NC_000021.7:g.44018593_44018594del | NCBI36 |
| NG_011545.1:g.7098_7099del , LRG_485:g.7098_7099del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291568.7:c.218_219del MANE Select | ENSP00000291568.6:p.Leu73ProfsTer3 | |
| ENST00000480147.3:n.1988_1989del | ||
| ENST00000639959.1:c.85_86del | ||
| ENST00000640406.1:c.*293_*294del | ENSP00000492672.1:n.*293_*294del | |
| ENST00000675996.1:n.643_644del | ||
| ENST00000291568.5:c.218_219del | ENSP00000291568.5:p.Leu73ProfsTer3 | |
| ENST00000480147.1:n.582_583del | ||
| NM_000100.3:c.218_219del , LRG_485t1:c.218_219del | NP_000091.1:p.Leu73ProfsTer3 | |
| NM_000100.4:c.218_219del MANE Select | NP_000091.1:p.Leu73ProfsTer3 |