Linked Data
ClinVar Variation Id:
1350516
ClinVar RCV Id:
RCV002041920
dbSNP Id:
rs2148414753
gnomAD v4:
2-29070719-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29070722_29070723del , CM000664.2:g.29070722_29070723del | GRCh38 |
| NC_000002.11:g.29293588_29293589del , CM000664.1:g.29293588_29293589del | GRCh37 |
| NC_000002.10:g.29147092_29147093del | NCBI36 |
| NG_021427.1:g.8541_8542del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3541_3542del MANE Select | ENSP00000332809.4:p.Leu1181ValfsTer15 | |
| ENST00000331664.5:c.3541_3542del | ENSP00000332809.4:p.Leu1181ValfsTer15 | |
| NM_001029883.2:c.3541_3542del | NP_001025054.1:p.Leu1181ValfsTer15 | |
| XM_011532826.1:c.3541_3542del | XP_011531128.1:p.Leu1181ValfsTer15 | |
| XR_939901.1:n.185+1555_185+1556del | ||
| XR_939902.1:n.173+1567_173+1568del | ||
| NM_001029883.3:c.3541_3542del MANE Select | NP_001025054.1:p.Leu1181ValfsTer15 |