Linked Data
ClinVar Variation Id:
420823
ClinVar RCV Id:
RCV000483731
dbSNP Id:
rs1064794725
gnomAD v4:
1-160135279-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160135282del , CM000663.2:g.160135282del | GRCh38 |
| NC_000001.10:g.160105072del , CM000663.1:g.160105072del | GRCh37 |
| NC_000001.9:g.158371696del | NCBI36 |
| NG_008014.1:g.24525del , LRG_6:g.24525del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361216.8:c.2102del MANE Select | ENSP00000354490.3:p.Gly701AspfsTer11 | |
| ENST00000361216.7:c.2102del | ENSP00000354490.3:p.Gly701AspfsTer11 | |
| ENST00000392233.7:c.2102del | ENSP00000376066.3:p.Gly701AspfsTer11 | |
| ENST00000447527.1:c.1234del | ||
| ENST00000472488.5:n.2205del | ||
| NM_000702.3:c.2102del | NP_000693.1:p.Gly701AspfsTer11 | |
| NM_000702.4:c.2102del MANE Select | NP_000693.1:p.Gly701AspfsTer11 |