Linked Data
dbSNP Id:
rs1600575156
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011411_46011422del , CM000682.2:g.46011411_46011422del | GRCh38 |
| NC_000020.10:g.44640050_44640061del , CM000682.1:g.44640050_44640061del | GRCh37 |
| NC_000020.9:g.44073457_44073468del | NCBI36 |
| NG_011468.1:g.7504_7515del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.823+95_823+106del MANE Select | ENSP00000361405.3:n.823+95_823+106del | |
| NM_004994.2:c.823+95_823+106del | NP_004985.2:n.823+95_823+106del | |
| NM_004994.3:c.823+95_823+106del MANE Select | NP_004985.2:n.823+95_823+106del |