Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19953517_19953518dup , CM000670.2:g.19953517_19953518dup | GRCh38 |
| NC_000008.10:g.19811028_19811029dup , CM000670.1:g.19811028_19811029dup | GRCh37 |
| NC_000008.9:g.19855308_19855309dup | NCBI36 |
| NG_008855.1:g.19447_19448dup | |
| NG_008855.2:g.56801_56802dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.541+96_541+97dup MANE Select | NP_000228.1:n.541+96_541+97dup |
| ENST00000650287.1:c.541+96_541+97dup MANE Select | ENSP00000497642.1:n.541+96_541+97dup |
| NM_000237.2:c.541+96_541+97dup | NP_000228.1:n.541+96_541+97dup |
| ENST00000311322.8:c.541+96_541+97dup | ENSP00000309757.6:n.541+96_541+97dup |
| ENST00000520959.5:c.313+96_313+97dup | ENSP00000428496.1:n.313+96_313+97dup |