Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536352_42536354dup , CM000679.2:g.42536352_42536354dup | GRCh38 |
| NC_000017.10:g.40688370_40688372dup , CM000679.1:g.40688370_40688372dup | GRCh37 |
| NC_000017.9:g.37941896_37941898dup | NCBI36 |
| NG_011552.1:g.5420_5422dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.80_82dup MANE Select | ENSP00000225927.1:p.Arg27_Glu28insGly | |
| ENST00000225927.6:c.80_82dup | ENSP00000225927.1:p.Arg27_Glu28insGly | |
| NM_000263.3:c.80_82dup | NP_000254.2:p.Arg27_Glu28insGly | |
| XM_024450771.1:c.80_82dup | XP_024306539.1:p.Arg27_Glu28insGly | |
| NM_000263.4:c.80_82dup MANE Select | NP_000254.2:p.Arg27_Glu28insGly |