Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133356384_133356390dup , CM000671.2:g.133356384_133356390dup | GRCh38 |
| NC_000009.10:g.135213081_135213087dup | NCBI36 |
| NG_008477.1:g.5113_5119dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.54+27_54+33dup MANE Select | NP_003163.1:n.54+27_54+33dup |
| ENST00000371974.8:c.54+27_54+33dup MANE Select | ENSP00000361042.3:n.54+27_54+33dup |
| NM_001280787.1:c.-222+27_-222+33dup | NP_001267716.1:n.-222+27_-222+33dup |
| NM_003172.3:c.54+27_54+33dup | NP_003163.1:n.54+27_54+33dup |
| ENST00000371974.7:c.54+27_54+33dup | ENSP00000361042.3:n.54+27_54+33dup |
| ENST00000463965.1:n.277+27_277+33dup | |
| ENST00000615505.4:c.-222+27_-222+33dup | ENSP00000482067.1:n.-222+27_-222+33dup |