Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104037670dup , CM000672.2:g.104037670dup | GRCh38 |
| NC_000010.10:g.105797428dup , CM000672.1:g.105797428dup | GRCh37 |
| NC_000010.9:g.105787418dup | NCBI36 |
| NG_007069.1:g.53211dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3039dup | ENSP00000358748.3:p.Glu1014ArgfsTer27 | |
| ENST00000648076.2:c.3174dup MANE Select | ENSP00000497653.1:p.Glu1059ArgfsTer27 | |
| ENST00000353479.9:c.3174dup | ENSP00000340937.5:p.Glu1059ArgfsTer27 | |
| ENST00000369733.7:c.3039dup | ENSP00000358748.3:p.Glu1014ArgfsTer27 | |
| NM_000494.3:c.3174dup | NP_000485.3:p.Glu1059ArgfsTer27 | |
| NM_000494.4:c.3174dup MANE Select | NP_000485.3:p.Glu1059ArgfsTer27 |