Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412573_10412575delinsGTC , CM000682.2:g.10412573_10412575delinsGTC | GRCh38 |
| NC_000020.10:g.10393221_10393223delinsGTC , CM000682.1:g.10393221_10393223delinsGTC | GRCh37 |
| NC_000020.9:g.10341221_10341223delinsGTC | NCBI36 |
| NG_009109.1:g.26644_26646delinsGAC | |
| NG_009109.2:g.26644_26646delinsGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.940_942delinsGAC | ENSP00000498849.1:p.Asp314= | |
| ENST00000652676.1:n.584_586delinsGAC | ||
| ENST00000347364.7:c.940_942delinsGAC MANE Select | ENSP00000246062.4:p.Asp314= | |
| ENST00000399054.6:c.940_942delinsGAC | ENSP00000382008.2:p.Asp314= | |
| NM_018848.3:c.940_942delinsGAC | NP_061336.1:p.Asp314= | |
| NM_170784.2:c.940_942delinsGAC | NP_740754.1:p.Asp314= | |
| NR_072977.1:n.364-3772_364-3770delinsGAC | ||
| NR_072977.2:n.347-3772_347-3770delinsGAC | ||
| NM_170784.3:c.940_942delinsGAC MANE Select | NP_740754.1:p.Asp314= |