Linked Data
ClinVar Variation Id:
645504
ClinVar RCV Id:
RCV000799590
dbSNP Id:
rs1561121987
gnomAD v2:
5-54529186-CG-C
gnomAD v4:
5-55233358-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233360del , CM000667.2:g.55233360del | GRCh38 |
| NC_000005.9:g.54529188del , CM000667.1:g.54529188del | GRCh37 |
| NC_000005.8:g.54564945del | NCBI36 |
| NG_034201.1:g.5359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.165del MANE Select | ENSP00000282572.4:p.Gly56AlafsTer? | |
| ENST00000282572.4:c.165del | ENSP00000282572.4:p.Gly56AlafsTer? | |
| ENST00000501463.2:c.165del | ENSP00000422485.1:p.Gly56AlafsTer? | |
| NM_021147.4:c.165del | NP_066970.3:p.Gly56AlafsTer? | |
| NR_125346.1:n.359del | ||
| NR_125347.1:n.359del | ||
| NM_021147.5:c.165del MANE Select | NP_066970.3:p.Gly56AlafsTer? | |
| NR_125346.2:n.250del | ||
| NR_125347.2:n.250del |