Linked Data
gnomAD v4:
6-31269052-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269054del , CM000668.2:g.31269054del | GRCh38 |
| NC_000006.11:g.31236831del , CM000668.1:g.31236831del | GRCh37 |
| NC_000006.10:g.31344810del | NCBI36 |
| NG_029422.2:g.8079del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*116del MANE Select | ENSP00000365402.5:n.*116del | |
| ENST00000376228.9:c.*116del | ENSP00000365402.5:n.*116del | |
| ENST00000376237.8:c.*804del | ENSP00000365412.4:n.*804del | |
| ENST00000383329.7:c.*116del | ENSP00000372819.3:n.*116del | |
| ENST00000466892.5:n.450del | ||
| ENST00000470363.5:n.975del | ||
| ENST00000487245.5:n.1576del | ||
| NM_002117.5:c.*116del | NP_002108.4:n.*116del | |
| NM_002117.6:c.*116del MANE Select | NP_002108.4:n.*116del |