Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86510626_86510628dup , CM000678.2:g.86510626_86510628dup | GRCh38 |
| NC_000016.9:g.86544232_86544234dup , CM000678.1:g.86544232_86544234dup | GRCh37 |
| NC_000016.8:g.85101733_85101735dup | NCBI36 |
| NG_016273.1:g.5100_5102dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.57_59dup MANE Select | NP_001442.2:p.Gly20_Gly21insGly |
| ENST00000262426.6:c.57_59dup MANE Select | ENSP00000262426.4:p.Gly20_Gly21insGly |
| NM_001451.2:c.57_59dup | NP_001442.2:p.Gly20_Gly21insGly |
| ENST00000262426.5:c.57_59dup | ENSP00000262426.4:p.Gly20_Gly21insGly |