Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82091466_82091467dup , CM000679.2:g.82091466_82091467dup | GRCh38 |
| NC_000017.10:g.80049342_80049343dup , CM000679.1:g.80049342_80049343dup | GRCh37 |
| NC_000017.9:g.77642631_77642632dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004104.5:c.1249_1250dup MANE Select | NP_004095.4:p.Ala418MetfsTer? |
| ENST00000306749.4:c.1249_1250dup MANE Select | ENSP00000304592.2:p.Ala418MetfsTer? |
| NM_004104.4:c.1249_1250dup | NP_004095.4:p.Ala418MetfsTer? |
| ENST00000306749.3:c.1249_1250dup | ENSP00000304592.2:p.Ala418MetfsTer? |
| ENST00000634990.1:c.1249_1250dup | ENSP00000488964.1:p.Ala418MetfsTer? |
| XM_011523538.1:c.1249_1250dup | XP_011521840.1:p.Ala418MetfsTer? |
| XM_011523538.2:c.1249_1250dup | XP_011521840.1:p.Ala418MetfsTer? |