Linked Data
dbSNP Id:
rs2136356628
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718306_12718320del , CM000674.2:g.12718306_12718320del | GRCh38 |
| NC_000012.11:g.12871240_12871254del , CM000674.1:g.12871240_12871254del | GRCh37 |
| NC_000012.10:g.12762507_12762521del | NCBI36 |
| NG_016341.1:g.5939_5953del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.467_475+6del | ||
| ENST00000682620.1:n.1631-519_1631-505del | ||
| ENST00000684771.1:n.585-519_585-505del | ||
| ENST00000228872.9:c.467_475+6del | ||
| ENST00000228872.8:c.467_475+6del | ||
| ENST00000396340.1:c.467_475+6del | ||
| ENST00000442489.1:c.193+253_193+267del | ENSP00000407597.1:n.193+253_193+267del | |
| ENST00000477087.1:n.155-519_155-505del | ||
| NM_004064.4:c.467_475+6del | ||
| NM_004064.5:c.467_475+6del |