Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322491_73322493delinsAAC , CM000677.2:g.73322491_73322493delinsAAC | GRCh38 |
| NC_000015.9:g.73614832_73614834delinsAAC , CM000677.1:g.73614832_73614834delinsAAC | GRCh37 |
| NC_000015.8:g.71401885_71401887delinsAAC | NCBI36 |
| NG_009063.1:g.51772_51774delinsGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3600_3602delinsGTT MANE Select | ENSP00000261917.3:p.Ser1201Phe | |
| ENST00000261917.3:c.3600_3602delinsGTT | ENSP00000261917.3:p.Ser1201Phe | |
| NM_005477.2:c.3600_3602delinsGTT | NP_005468.1:p.Ser1201Phe | |
| XM_011521148.1:c.2382_2384delinsGTT | XP_011519450.1:p.Ser795Phe | |
| XM_011521148.2:c.2382_2384delinsGTT | XP_011519450.1:p.Ser795Phe | |
| NM_005477.3:c.3600_3602delinsGTT MANE Select | NP_005468.1:p.Ser1201Phe |