Linked Data
gnomAD v2:
12-6979571-TC-T
gnomAD v4:
12-6870407-TC-T
MyVariant Identifiers:
chr12:g.6979572del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870409del , CM000674.2:g.6870409del | GRCh38 |
| NC_000012.11:g.6979573del , CM000674.1:g.6979573del | GRCh37 |
| NC_000012.10:g.6849834del | NCBI36 |
| NG_011948.1:g.7990del | |
| NG_013308.1:g.7950del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.*26del MANE Select | ENSP00000379933.4:n.*26del | |
| ENST00000229270.8:c.*26del | ENSP00000229270.4:n.*26del | |
| ENST00000396705.9:c.*26del | ENSP00000379933.4:n.*26del | |
| ENST00000474253.1:n.265del | ||
| ENST00000535434.5:c.*26del | ENSP00000443599.1:n.*26del | |
| ENST00000613953.4:c.*26del | ENSP00000484435.1:n.*26del | |
| NM_000365.5:c.*26del | NP_000356.1:n.*26del | |
| NM_001159287.1:c.*26del | NP_001152759.1:n.*26del | |
| NM_001258026.1:c.*26del | NP_001244955.1:n.*26del | |
| XR_002957378.1:n.1784del | ||
| NM_000365.6:c.*26del MANE Select | NP_000356.1:n.*26del | |
| NM_001258026.2:c.*26del | NP_001244955.1:n.*26del |