Linked Data
gnomAD v4:
8-86575702-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575704del , CM000670.2:g.86575704del | GRCh38 |
| NC_000008.10:g.87587932del , CM000670.1:g.87587932del | GRCh37 |
| NC_000008.9:g.87657048del | NCBI36 |
| NG_016980.1:g.172973del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.*101del MANE Select | ENSP00000316605.5:n.*101del | |
| ENST00000681546.1:n.2351del | ||
| ENST00000681746.1:c.*942del | ENSP00000505959.1:n.*942del | |
| ENST00000320005.5:c.*101del | ENSP00000316605.5:n.*101del | |
| ENST00000517327.5:c.276+2986del | ENSP00000428329.1:n.276+2986del | |
| NM_019098.4:c.*101del | NP_061971.3:n.*101del | |
| XM_011517138.1:c.*101del | XP_011515440.1:n.*101del | |
| XM_011517138.2:c.*101del | XP_011515440.1:n.*101del | |
| NM_019098.5:c.*101del MANE Select | NP_061971.3:n.*101del |