Linked Data
ClinVar Variation Id:
21053
ClinVar RCV Id:
RCV000020123
dbSNP Id:
rs80358234
ExAC:
9:132576312 ACTCT / A
gnomAD v2:
9-132576312-ACTCT-A
gnomAD v4:
9-129814033-ACTCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814037_129814040del , CM000671.2:g.129814037_129814040del | GRCh38 |
| NC_000009.11:g.132576316_132576319del , CM000671.1:g.132576316_132576319del | GRCh37 |
| NC_000009.10:g.131616137_131616140del | NCBI36 |
| NG_008049.1:g.15126_15129del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.934_937del MANE Select | ENSP00000345719.4:p.Arg312PhefsTer14 | |
| ENST00000651202.1:c.*202_*205del | ENSP00000498222.1:n.*202_*205del | |
| ENST00000351698.4:c.934_937del | ENSP00000345719.4:p.Arg312PhefsTer14 | |
| ENST00000474192.1:n.518_521del | ||
| NM_000113.2:c.934_937del | NP_000104.1:p.Arg312PhefsTer14 | |
| XR_929731.1:n.1261_1264del | ||
| XR_929731.3:n.1129_1132del | ||
| NM_000113.3:c.934_937del MANE Select | NP_000104.1:p.Arg312PhefsTer14 |