Linked Data
ClinVar Variation Id:
2071155
ClinVar RCV Id:
RCV002975362
dbSNP Id:
rs80358234
gnomAD v4:
9-129814033-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814039_129814040del , CM000671.2:g.129814039_129814040del | GRCh38 |
| NC_000009.11:g.132576318_132576319del , CM000671.1:g.132576318_132576319del | GRCh37 |
| NC_000009.10:g.131616139_131616140del | NCBI36 |
| NG_008049.1:g.15128_15129del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.936_937del MANE Select | ENSP00000345719.4:p.Arg312SerfsTer5 | |
| ENST00000651202.1:c.*204_*205del | ENSP00000498222.1:n.*204_*205del | |
| ENST00000351698.4:c.936_937del | ENSP00000345719.4:p.Arg312SerfsTer5 | |
| ENST00000474192.1:n.520_521del | ||
| NM_000113.2:c.936_937del | NP_000104.1:p.Arg312SerfsTer5 | |
| XR_929731.1:n.1263_1264del | ||
| XR_929731.3:n.1131_1132del | ||
| NM_000113.3:c.936_937del MANE Select | NP_000104.1:p.Arg312SerfsTer5 |