Linked Data
gnomAD v4:
6-31269080-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269083del , CM000668.2:g.31269083del | GRCh38 |
| NC_000006.11:g.31236860del , CM000668.1:g.31236860del | GRCh37 |
| NC_000006.10:g.31344839del | NCBI36 |
| NG_029422.2:g.8051del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*88del MANE Select | ENSP00000365402.5:n.*88del | |
| ENST00000376228.9:c.*88del | ENSP00000365402.5:n.*88del | |
| ENST00000376237.8:c.*776del | ENSP00000365412.4:n.*776del | |
| ENST00000383329.7:c.*88del | ENSP00000372819.3:n.*88del | |
| ENST00000466892.5:n.422del | ||
| ENST00000470363.5:n.947del | ||
| ENST00000487245.5:n.1548del | ||
| NM_002117.5:c.*88del | NP_002108.4:n.*88del | |
| NM_002117.6:c.*88del MANE Select | NP_002108.4:n.*88del |