Linked Data
gnomAD v4:
1-119422890-GTCTCTCTTAACTTGAGGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422896_119422913del , CM000663.2:g.119422896_119422913del | GRCh38 |
| NC_000001.10:g.119965519_119965536del , CM000663.1:g.119965519_119965536del | GRCh37 |
| NC_000001.9:g.119767042_119767059del | NCBI36 |
| NG_013349.1:g.12966_12983del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369416.4:c.*276_*293del MANE Select | ENSP00000358424.3:n.*276_*293del | |
| ENST00000369416.3:c.*276_*293del | ENSP00000358424.3:n.*276_*293del | |
| ENST00000543831.5:c.*276_*293del | ENSP00000445122.1:n.*276_*293del | |
| NM_000198.3:c.*276_*293del | NP_000189.1:n.*276_*293del | |
| NM_001166120.1:c.*276_*293del | NP_001159592.1:n.*276_*293del | |
| NM_000198.4:c.*276_*293del MANE Select | NP_000189.1:n.*276_*293del | |
| NM_001166120.2:c.*276_*293del | NP_001159592.1:n.*276_*293del |