Linked Data
dbSNP Id:
rs2025368925
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274931_2274934del , CM000681.2:g.2274931_2274934del | GRCh38 |
| NC_000019.9:g.2274930_2274933del , CM000681.1:g.2274930_2274933del | GRCh37 |
| NC_000019.8:g.2225930_2225933del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*746_*749del MANE Select | ENSP00000345102.3:n.*746_*749del | |
| ENST00000342063.4:c.*746_*749del | ENSP00000345102.3:n.*746_*749del | |
| ENST00000621615.1:c.146+5187_146+5190del | ENSP00000481965.1:n.146+5187_146+5190del | |
| NM_198532.2:c.*746_*749del | NP_940934.1:n.*746_*749del | |
| NM_198532.3:c.*746_*749del MANE Select | NP_940934.1:n.*746_*749del |