Linked Data
ClinVar Variation Id:
843466
ClinVar RCV Id:
RCV001046103
dbSNP Id:
rs1319576439
gnomAD v2:
5-148407490-AG-A
gnomAD v4:
5-149027927-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027929del , CM000667.2:g.149027929del | GRCh38 |
| NC_000005.9:g.148407492del , CM000667.1:g.148407492del | GRCh37 |
| NC_000005.8:g.148387685del | NCBI36 |
| NG_007947.2:g.40247del , LRG_269:g.40247del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1700del | ||
| ENST00000515425.6:c.1804del MANE Select | ENSP00000423660.1:p.Leu602CysfsTer? | |
| ENST00000675793.1:c.*1088del | ENSP00000502039.1:n.*1088del | |
| ENST00000676056.1:c.*1314del | ENSP00000501827.1:n.*1314del | |
| ENST00000323829.9:c.*1192del | ENSP00000313025.5:n.*1192del | |
| ENST00000504517.5:c.1334del | ENSP00000421779.1:n.1334del | |
| ENST00000504690.5:c.1804del | ENSP00000425627.1:p.Leu602CysfsTer? | |
| ENST00000510779.1:c.854del | ||
| ENST00000511307.5:c.*1584del | ENSP00000421420.1:n.*1584del | |
| ENST00000512049.5:c.1783del | ENSP00000421860.1:p.Leu595CysfsTer? | |
| ENST00000513604.5:c.*1192del | ENSP00000423111.1:n.*1192del | |
| ENST00000515425.5:c.1804del | ENSP00000423660.1:p.Leu602CysfsTer? | |
| NM_024577.3:c.1804del , LRG_269t1:c.1804del | NP_078853.2:p.Leu602CysfsTer? | |
| NM_024577.4:c.1804del MANE Select | NP_078853.2:p.Leu602CysfsTer? |