Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940399_67940400dup , CM000678.2:g.67940399_67940400dup | GRCh38 |
| NC_000016.9:g.67974302_67974303dup , CM000678.1:g.67974302_67974303dup | GRCh37 |
| NC_000016.8:g.66531803_66531804dup | NCBI36 |
| NG_009778.1:g.8714_8715dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.828_829dup MANE Select | ENSP00000264005.5:p.Phe277CysfsTer? | |
| ENST00000264005.9:c.828_829dup | ENSP00000264005.5:p.Phe277CysfsTer? | |
| ENST00000570369.5:c.156-325_156-324dup | ||
| ENST00000570980.1:c.612_613dup | ENSP00000464651.1:p.Phe205CysfsTer? | |
| ENST00000573538.5:c.566_567dup | ENSP00000463220.1:n.566_567dup | |
| NM_000229.1:c.828_829dup | NP_000220.1:p.Phe277CysfsTer? | |
| NM_000229.2:c.828_829dup MANE Select | NP_000220.1:p.Phe277CysfsTer? |