Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93612981_93612982dup , CM000672.2:g.93612981_93612982dup | GRCh38 |
| NC_000010.10:g.95372738_95372739dup , CM000672.1:g.95372738_95372739dup | GRCh37 |
| NC_000010.9:g.95362728_95362729dup | NCBI36 |
| NG_016752.1:g.5394_5395dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006204.4:c.256_257dup MANE Select | NP_006195.3:p.Leu87GlyfsTer? |
| ENST00000371447.4:c.256_257dup MANE Select | ENSP00000360502.3:p.Leu87GlyfsTer? |
| NM_006204.3:c.256_257dup | NP_006195.3:p.Leu87GlyfsTer? |
| ENST00000371447.3:c.256_257dup | ENSP00000360502.3:p.Leu87GlyfsTer? |