Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42958161_42958167delinsTAGAAGA , CM000677.2:g.42958161_42958167delinsTAGAAGA | GRCh38 |
| NC_000015.9:g.43250359_43250365delinsTAGAAGA , CM000677.1:g.43250359_43250365delinsTAGAAGA | GRCh37 |
| NC_000015.8:g.41037651_41037657delinsTAGAAGA | NCBI36 |
| NG_012182.1:g.152922_152928delinsTCTTCTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4758-77_4758-71delinsTCTTCTA MANE Select | ENSP00000290650.4:n.4758-77_4758-71delinsTCTTCTA | |
| ENST00000290650.8:c.4758-77_4758-71delinsTCTTCTA | ENSP00000290650.4:n.4758-77_4758-71delinsTCTTCTA | |
| NM_174916.2:c.4758-77_4758-71delinsTCTTCTA | NP_777576.1:n.4758-77_4758-71delinsTCTTCTA | |
| NM_174916.3:c.4758-77_4758-71delinsTCTTCTA MANE Select | NP_777576.1:n.4758-77_4758-71delinsTCTTCTA |