Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612722_41612723delinsTG , CM000679.2:g.41612722_41612723delinsTG | GRCh38 |
| NC_000017.10:g.39768974_39768975delinsTG , CM000679.1:g.39768974_39768975delinsTG | GRCh37 |
| NC_000017.9:g.37022500_37022501delinsTG | NCBI36 |
| NG_008301.1:g.5105_5106delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.-35_-34delinsCA MANE Select | ENSP00000301653.3:n.-35_-34delinsCA | |
| ENST00000301653.8:c.-35_-34delinsCA | ENSP00000301653.3:n.-35_-34delinsCA | |
| ENST00000588319.1:n.43_44delinsCA | ||
| ENST00000590990.1:c.-35_-34delinsCA | ENSP00000467105.1:n.-35_-34delinsCA | |
| ENST00000593067.1:c.-313+67_-313+68delinsCA | ENSP00000467124.1:n.-313+67_-313+68delinsCA | |
| NM_005557.3:c.-35_-34delinsCA | NP_005548.2:n.-35_-34delinsCA | |
| NM_005557.4:c.-35_-34delinsCA MANE Select | NP_005548.2:n.-35_-34delinsCA |