Linked Data
ClinVar Variation Id:
1449737
ClinVar RCV Id:
RCV001989779
dbSNP Id:
rs1419612164
gnomAD v3:
10-68231651-CG-C
gnomAD v4:
10-68231651-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231654del , CM000672.2:g.68231654del | GRCh38 |
| NC_000010.10:g.69991411del , CM000672.1:g.69991411del | GRCh37 |
| NC_000010.9:g.69661417del | NCBI36 |
| NG_031934.1:g.5462del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.26del MANE Select | ENSP00000362777.3:p.Pro9ArgfsTer? | |
| ENST00000373673.4:c.26del | ENSP00000362777.3:p.Pro9ArgfsTer? | |
| NM_145178.3:c.26del | NP_660161.1:p.Pro9ArgfsTer? | |
| NM_145178.4:c.26del MANE Select | NP_660161.1:p.Pro9ArgfsTer? |