Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285485_40285487delinsAAG , CM000681.2:g.40285485_40285487delinsAAG | GRCh38 |
| NC_000019.9:g.40791392_40791394delinsAAG , CM000681.1:g.40791392_40791394delinsAAG | GRCh37 |
| NC_000019.8:g.45483232_45483234delinsAAG | NCBI36 |
| NG_012038.2:g.4872_4874delinsCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578123.5:c.-124_-122delinsCTT | ENSP00000462022.1:n.-124_-122delinsCTT | |
| XM_011526620.1:c.-124_-122delinsCTT | XP_011524922.1:n.-124_-122delinsCTT |