Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533874_7533875delinsGT , CM000681.2:g.7533874_7533875delinsGT | GRCh38 |
| NC_000019.9:g.7598760_7598761delinsGT , CM000681.1:g.7598760_7598761delinsGT | GRCh37 |
| NC_000019.8:g.7504760_7504761delinsGT | NCBI36 |
| NG_013374.1:g.4723_4724delinsGT | |
| NG_015806.1:g.16265_16266delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*79_*80delinsGT MANE Select | ENSP00000264079.5:n.*79_*80delinsGT | |
| ENST00000264079.10:c.*79_*80delinsGT | ENSP00000264079.5:n.*79_*80delinsGT | |
| ENST00000394321.9:n.2137_2138delinsGT | ||
| ENST00000599334.1:c.550_551delinsGT | ||
| ENST00000601870.1:c.169+6_169+7delinsGT | ||
| ENST00000602227.1:n.376_377delinsGT | ||
| NM_020533.2:c.*79_*80delinsGT | NP_065394.1:n.*79_*80delinsGT | |
| NM_020533.3:c.*79_*80delinsGT MANE Select | NP_065394.1:n.*79_*80delinsGT |