Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583321dup , CM000679.2:g.41583321dup | GRCh38 |
| NC_000017.10:g.39739573dup , CM000679.1:g.39739573dup | GRCh37 |
| NC_000017.9:g.36993099dup | NCBI36 |
| NG_008624.1:g.8576dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1189dup MANE Select | ENSP00000167586.6:p.Glu397GlyfsTer? | |
| ENST00000167586.6:c.1189dup | ENSP00000167586.6:p.Glu397GlyfsTer? | |
| ENST00000441550.2:n.136dup | ||
| ENST00000476662.1:n.639dup | ||
| NM_000526.4:c.1189dup | NP_000517.2:p.Glu397GlyfsTer? | |
| NM_000526.5:c.1189dup MANE Select | NP_000517.3:p.Glu397GlyfsTer? |