Linked Data
dbSNP Id:
rs967077767
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69647948_69647949del , CM000673.2:g.69647948_69647949del | GRCh38 |
| NC_000011.9:g.69462716_69462717del , CM000673.1:g.69462716_69462717del | GRCh37 |
| NC_000011.8:g.69171897_69171898del | NCBI36 |
| NG_007375.1:g.11844_11845del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.575-46_575-45del MANE Select | ENSP00000227507.2:n.575-46_575-45del | |
| ENST00000227507.2:c.575-46_575-45del | ENSP00000227507.2:n.575-46_575-45del | |
| ENST00000536559.1:c.199-46_199-45del | ENSP00000438482.1:n.199-46_199-45del | |
| ENST00000545484.1:n.281-46_281-45del | ||
| NM_053056.2:c.575-46_575-45del | NP_444284.1:n.575-46_575-45del | |
| XM_006718653.2:c.599-46_599-45del | XP_006718716.1:n.599-46_599-45del | |
| NM_053056.3:c.575-46_575-45del MANE Select | NP_444284.1:n.575-46_575-45del |