Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323072_73323079delinsCACAAGGG , CM000677.2:g.73323072_73323079delinsCACAAGGG | GRCh38 |
| NC_000015.9:g.73615413_73615420delinsCACAAGGG , CM000677.1:g.73615413_73615420delinsCACAAGGG | GRCh37 |
| NC_000015.8:g.71402466_71402473delinsCACAAGGG | NCBI36 |
| NG_009063.1:g.51186_51193delinsCCCTTGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3014_3021delinsCCCTTGTG MANE Select | ENSP00000261917.3:p.Ser1005= | |
| ENST00000261917.3:c.3014_3021delinsCCCTTGTG | ENSP00000261917.3:p.Ser1005= | |
| NM_005477.2:c.3014_3021delinsCCCTTGTG | NP_005468.1:p.Ser1005= | |
| XM_011521148.1:c.1796_1803delinsCCCTTGTG | XP_011519450.1:p.Ser599= | |
| XM_011521148.2:c.1796_1803delinsCCCTTGTG | XP_011519450.1:p.Ser599= | |
| NM_005477.3:c.3014_3021delinsCCCTTGTG MANE Select | NP_005468.1:p.Ser1005= |