Linked Data
ClinVar Variation Id:
236516
ClinVar RCV Id:
RCV000225375
dbSNP Id:
rs878853397
gnomAD v4:
1-94043427-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043430del , CM000663.2:g.94043430del | GRCh38 |
| NC_000001.10:g.94508986del , CM000663.1:g.94508986del | GRCh37 |
| NC_000001.9:g.94281574del | NCBI36 |
| NG_009073.1:g.82722del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3098del MANE Select | ENSP00000359245.3:p.Lys1033SerfsTer? | |
| ENST00000370225.3:c.3098del | ENSP00000359245.3:p.Lys1033SerfsTer? | |
| ENST00000536513.5:c.-64-3339del | ENSP00000439707.2:n.-64-3339del | |
| NM_000350.2:c.3098del | NP_000341.2:p.Lys1033SerfsTer? | |
| NM_000350.3:c.3098del MANE Select | NP_000341.2:p.Lys1033SerfsTer? |