Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323210_73323215dup , CM000677.2:g.73323210_73323215dup | GRCh38 |
| NC_000015.9:g.73615551_73615556dup , CM000677.1:g.73615551_73615556dup | GRCh37 |
| NC_000015.8:g.71402604_71402609dup | NCBI36 |
| NG_009063.1:g.51056_51061dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.2884_2889dup MANE Select | ENSP00000261917.3:p.Pro963_Ser964insProPro | |
| ENST00000261917.3:c.2884_2889dup | ENSP00000261917.3:p.Pro963_Ser964insProPro | |
| NM_005477.2:c.2884_2889dup | NP_005468.1:p.Pro963_Ser964insProPro | |
| XM_011521148.1:c.1666_1671dup | XP_011519450.1:p.Pro557_Ser558insProPro | |
| XM_011521148.2:c.1666_1671dup | XP_011519450.1:p.Pro557_Ser558insProPro | |
| NM_005477.3:c.2884_2889dup MANE Select | NP_005468.1:p.Pro963_Ser964insProPro |