Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21001943_21001945dup , CM000664.2:g.21001943_21001945dup | GRCh38 |
| NC_000002.11:g.21224815_21224817dup , CM000664.1:g.21224815_21224817dup | GRCh37 |
| NC_000002.10:g.21078320_21078322dup | NCBI36 |
| NG_011793.1:g.47132_47134dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13480_13482dup MANE Select | ENSP00000233242.1:p.Gln4494_Phe4495insGln | |
| ENST00000616098.4:c.13478_13480dup | ENSP00000477990.1:n.13478_13480dup | |
| NM_000384.2:c.13480_13482dup | NP_000375.2:p.Gln4494_Phe4495insGln | |
| XM_011532809.1:c.5870-2669_5870-2667dup | XP_011531111.1:n.5870-2669_5870-2667dup | |
| NM_000384.3:c.13480_13482dup MANE Select | NP_000375.3:p.Gln4494_Phe4495insGln |