Linked Data
dbSNP Id:
rs1876891783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65965814_65965816del , CM000674.2:g.65965814_65965816del | GRCh38 |
| NC_000012.11:g.66359594_66359596del , CM000674.1:g.66359594_66359596del | GRCh37 |
| NC_000012.10:g.64645861_64645863del | NCBI36 |
| NG_016296.1:g.146355_146357del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403681.7:c.*2522_*2524del MANE Select | ENSP00000384026.2:n.*2522_*2524del | |
| ENST00000403681.6:c.*2522_*2524del | ENSP00000384026.2:n.*2522_*2524del | |
| NM_003483.4:c.*2522_*2524del | NP_003474.1:n.*2522_*2524del | |
| NM_003483.6:c.*2522_*2524del MANE Select | NP_003474.1:n.*2522_*2524del |