Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94769874_94769876dup , CM000676.2:g.94769874_94769876dup | GRCh38 |
| NC_000014.8:g.95236211_95236213dup , CM000676.1:g.95236211_95236213dup | GRCh37 |
| NC_000014.7:g.94305964_94305966dup | NCBI36 |
| NG_034111.1:g.5293_5295dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173849.3:c.146_148dup MANE Select | NP_776248.1:p.Gly49_Ala50insGly |
| ENST00000238558.5:c.146_148dup MANE Select | ENSP00000238558.3:p.Gly49_Ala50insGly |
| NM_173849.2:c.146_148dup | NP_776248.1:p.Gly49_Ala50insGly |
| ENST00000238558.4:c.146_148dup | ENSP00000238558.3:p.Gly49_Ala50insGly |