Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612316_41612318del , CM000679.2:g.41612316_41612318del | GRCh38 |
| NC_000017.10:g.39768568_39768570del , CM000679.1:g.39768568_39768570del | GRCh37 |
| NC_000017.9:g.37022094_37022096del | NCBI36 |
| NG_008301.1:g.5510_5512del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.371_373del MANE Select | ENSP00000301653.3:p.Leu124_Asn125delinsHis | |
| ENST00000301653.8:c.371_373del | ENSP00000301653.3:p.Leu124_Asn125delinsHis | |
| ENST00000588319.1:n.448_450del | ||
| ENST00000593067.1:c.-312-32_-312-30del | ENSP00000467124.1:n.-312-32_-312-30del | |
| NM_005557.3:c.371_373del | NP_005548.2:p.Leu124_Asn125delinsHis | |
| NM_005557.4:c.371_373del MANE Select | NP_005548.2:p.Leu124_Asn125delinsHis |