Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989035_94989039dup , CM000672.2:g.94989035_94989039dup | GRCh38 |
| NC_000010.10:g.96748792_96748796dup , CM000672.1:g.96748792_96748796dup | GRCh37 |
| NC_000010.9:g.96738782_96738786dup | NCBI36 |
| NG_008385.1:g.55378_55382dup | |
| NG_008385.2:g.55878_55882dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.*7_*11dup MANE Select | ENSP00000260682.6:n.*7_*11dup | |
| ENST00000643112.1:c.*489_*493dup | ENSP00000496202.1:n.*489_*493dup | |
| ENST00000260682.6:c.*7_*11dup | ENSP00000260682.6:n.*7_*11dup | |
| NM_000771.3:c.*7_*11dup | NP_000762.2:n.*7_*11dup | |
| NM_000771.4:c.*7_*11dup MANE Select | NP_000762.2:n.*7_*11dup |