Linked Data
gnomAD v4:
5-178995008-AGAGCGCGGGCTCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178995010_178995022del , CM000667.2:g.178995010_178995022del | GRCh38 |
| NC_000005.9:g.178422011_178422023del , CM000667.1:g.178422011_178422023del | GRCh37 |
| NC_000005.8:g.178354617_178354629del | NCBI36 |
| NG_008105.1:g.5103_5115del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.-16-61_-16-49del MANE Select | ENSP00000430767.1:n.-16-61_-16-49del | |
| ENST00000650031.1:c.-16-61_-16-49del | ENSP00000497110.1:n.-16-61_-16-49del | |
| ENST00000231188.9:c.-77_-65del | ENSP00000231188.5:n.-77_-65del | |
| ENST00000517717.1:c.-16-61_-16-49del | ENSP00000430767.1:n.-16-61_-16-49del | |
| NM_000843.3:c.-77_-65del | NP_000834.2:n.-77_-65del | |
| NM_000843.4:c.-16-61_-16-49del MANE Select | NP_000834.2:n.-16-61_-16-49del |