Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949283dup , CM000672.2:g.94949283dup | GRCh38 |
| NC_000010.10:g.96709040dup , CM000672.1:g.96709040dup | GRCh37 |
| NC_000010.9:g.96699030dup | NCBI36 |
| NG_008385.1:g.15626dup | |
| NG_008385.2:g.16126dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000771.4:c.818dup MANE Select | NP_000762.2:p.Glu274GlyfsTer8 |
| ENST00000260682.8:c.818dup MANE Select | ENSP00000260682.6:p.Glu274GlyfsTer8 |
| NM_000771.3:c.818dup | NP_000762.2:p.Glu274GlyfsTer8 |
| ENST00000260682.6:c.818dup | ENSP00000260682.6:p.Glu274GlyfsTer8 |
| ENST00000473496.1:n.589dup | |
| ENST00000643112.1:c.818dup | ENSP00000496202.1:p.Leu274AlafsTer? |