Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208807_14208812delinsAAATTG , CM000679.2:g.14208807_14208812delinsAAATTG | GRCh38 |
| NC_000017.10:g.14112124_14112129delinsAAATTG , CM000679.1:g.14112124_14112129delinsAAATTG | GRCh37 |
| NC_000017.9:g.14052849_14052854delinsAAATTG | NCBI36 |
| NG_008034.1:g.144406_144411delinsAAATTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000664217.1:c.*281+28_*281+33delinsAAATTG | ENSP00000499396.1:n.*281+28_*281+33delinsAAATTG | |
| ENST00000670279.1:c.929-702_929-697delinsAAATTG | ENSP00000499450.1:n.929-702_929-697delinsAAATTG | |
| XR_933974.1:n.1032-702_1032-697delinsAAATTG |