Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739809_86739818dup , CM000670.2:g.86739809_86739818dup | GRCh38 |
| NC_000008.10:g.87752037_87752046dup , CM000670.1:g.87752037_87752046dup | GRCh37 |
| NC_000008.9:g.87821153_87821162dup | NCBI36 |
| NG_016980.1:g.8861_8870dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-79_130-70dup MANE Select | ENSP00000316605.5:n.130-79_130-70dup | |
| ENST00000681746.1:c.130-79_130-70dup | ENSP00000505959.1:n.130-79_130-70dup | |
| ENST00000320005.5:c.130-79_130-70dup | ENSP00000316605.5:n.130-79_130-70dup | |
| ENST00000519777.1:n.112-79_112-70dup | ||
| NM_019098.4:c.130-79_130-70dup | NP_061971.3:n.130-79_130-70dup | |
| NM_019098.5:c.130-79_130-70dup MANE Select | NP_061971.3:n.130-79_130-70dup |