Linked Data
dbSNP Id:
rs1762578798
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612767_1612768del , CM000668.2:g.1612767_1612768del | GRCh38 |
| NC_000006.11:g.1613002_1613003del , CM000668.1:g.1613002_1613003del | GRCh37 |
| NC_000006.10:g.1558001_1558002del | NCBI36 |
| NG_009368.1:g.7322_7323del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*660_*661del MANE Select | ENSP00000493906.1:n.*660_*661del | |
| ENST00000380874.3:c.*660_*661del | ENSP00000370256.2:n.*660_*661del | |
| NM_001453.2:c.2322_2323del | NP_001444.2:n.2322_2323del | |
| NM_001453.3:c.*660_*661del MANE Select | NP_001444.2:n.*660_*661del |