Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19966872_19966877delinsTATTAA , CM000670.2:g.19966872_19966877delinsTATTAA | GRCh38 |
| NC_000008.10:g.19824383_19824388delinsTATTAA , CM000670.1:g.19824383_19824388delinsTATTAA | GRCh37 |
| NC_000008.9:g.19868663_19868668delinsTATTAA | NCBI36 |
| NG_008855.1:g.32802_32807delinsTATTAA | |
| NG_008855.2:g.70156_70161delinsTATTAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.*1562_*1567delinsTATTAA MANE Select | ENSP00000497642.1:n.*1562_*1567delinsTATTAA | |
| ENST00000650478.1:c.1930_1935delinsTATTAA | ENSP00000497560.1:n.1930_1935delinsTATTAA | |
| ENST00000311322.8:c.*1562_*1567delinsTATTAA | ENSP00000309757.6:n.*1562_*1567delinsTATTAA | |
| NM_000237.2:c.*1562_*1567delinsTATTAA | NP_000228.1:n.*1562_*1567delinsTATTAA | |
| NM_000237.3:c.*1562_*1567delinsTATTAA MANE Select | NP_000228.1:n.*1562_*1567delinsTATTAA |