Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965960_37965975dup , CM000670.2:g.37965960_37965975dup | GRCh38 |
| NC_000008.10:g.37823478_37823493dup , CM000670.1:g.37823478_37823493dup | GRCh37 |
| NC_000008.9:g.37942635_37942650dup | NCBI36 |
| NG_011936.1:g.5693_5708dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.496_511dup MANE Select | NP_000016.1:p.Ala171GlyfsTer? |
| ENST00000345060.5:c.496_511dup MANE Select | ENSP00000343782.3:p.Ala171GlyfsTer? |
| NM_000025.2:c.496_511dup | NP_000016.1:p.Ala171GlyfsTer? |
| ENST00000345060.4:c.496_511dup | ENSP00000343782.3:p.Ala171GlyfsTer? |
| ENST00000520341.2:n.624_639dup | |
| ENST00000614635.1:c.496_511dup | ENSP00000480325.1:p.Ala171GlyfsTer? |