Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013659_25013661dup , CM000685.2:g.25013659_25013661dup | GRCh38 |
| NC_000023.10:g.25031776_25031778dup , CM000685.1:g.25031776_25031778dup | GRCh37 |
| NC_000023.9:g.24941697_24941699dup | NCBI36 |
| NG_008281.1:g.7290_7292dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.336_338dup MANE Select | ENSP00000368332.4:p.Ala113_Ala114insAla | |
| ENST00000379044.4:c.336_338dup | ENSP00000368332.4:p.Ala113_Ala114insAla | |
| NM_139058.2:c.336_338dup | NP_620689.1:p.Ala113_Ala114insAla | |
| NM_139058.3:c.336_338dup MANE Select | NP_620689.1:p.Ala113_Ala114insAla |