Linked Data
dbSNP Id:
rs1670299054
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887166_43887168del , CM000664.2:g.43887166_43887168del | GRCh38 |
| NC_000002.11:g.44114305_44114307del , CM000664.1:g.44114305_44114307del | GRCh37 |
| NC_000002.10:g.43967809_43967811del | NCBI36 |
| NG_008247.1:g.113839_113841del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2385_2387del | ||
| ENST00000684454.1:n.9482_9484del | ||
| ENST00000260665.12:c.*1433_*1435del MANE Select | ENSP00000260665.7:n.*1433_*1435del | |
| ENST00000260665.11:c.*1433_*1435del | ENSP00000260665.7:n.*1433_*1435del | |
| NM_133259.3:c.*1433_*1435del | NP_573566.2:n.*1433_*1435del | |
| XR_002958896.1:n.5800_5802del | ||
| NM_133259.4:c.*1433_*1435del MANE Select | NP_573566.2:n.*1433_*1435del |