Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658475_10658479dup , CM000682.2:g.10658475_10658479dup | GRCh38 |
| NC_000020.10:g.10639123_10639127dup , CM000682.1:g.10639123_10639127dup | GRCh37 |
| NC_000020.9:g.10587123_10587127dup | NCBI36 |
| NG_007496.1:g.20570_20574dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.685_689dup MANE Select | ENSP00000254958.4:p.Arg231ValfsTer? | |
| ENST00000254958.9:c.685_689dup | ENSP00000254958.4:p.Arg231ValfsTer? | |
| ENST00000423891.6:n.551_555dup | ||
| NM_000214.2:c.685_689dup | NP_000205.1:p.Arg231ValfsTer? | |
| NM_000214.3:c.685_689dup MANE Select | NP_000205.1:p.Arg231ValfsTer? |