Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86510632_86510634dup , CM000678.2:g.86510632_86510634dup | GRCh38 |
| NC_000016.9:g.86544238_86544240dup , CM000678.1:g.86544238_86544240dup | GRCh37 |
| NC_000016.8:g.85101739_85101741dup | NCBI36 |
| NG_016273.1:g.5106_5108dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.63_65dup MANE Select | NP_001442.2:p.Gly22_Gly23insGly |
| ENST00000262426.6:c.63_65dup MANE Select | ENSP00000262426.4:p.Gly22_Gly23insGly |
| NM_001451.2:c.63_65dup | NP_001442.2:p.Gly22_Gly23insGly |
| ENST00000262426.5:c.63_65dup | ENSP00000262426.4:p.Gly22_Gly23insGly |