Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008072_88008091dup , CM000666.2:g.88008072_88008091dup | GRCh38 |
| NC_000004.11:g.88929224_88929243dup , CM000666.1:g.88929224_88929243dup | GRCh37 |
| NC_000004.10:g.89148248_89148267dup | NCBI36 |
| NG_008604.1:g.5405_5424dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.339_358dup MANE Select | ENSP00000237596.2:p.Pro120ArgfsTer4 | |
| ENST00000237596.6:c.339_358dup | ENSP00000237596.2:p.Pro120ArgfsTer4 | |
| NM_000297.3:c.339_358dup | NP_000288.1:p.Pro120ArgfsTer4 | |
| XM_011532028.1:c.339_358dup | XP_011530330.1:p.Pro120ArgfsTer4 | |
| XR_244632.2:n.434_453dup | ||
| NR_156488.1:n.426_445dup | ||
| XM_011532028.2:c.339_358dup | XP_011530330.1:p.Pro120ArgfsTer4 | |
| NM_000297.4:c.339_358dup MANE Select | NP_000288.1:p.Pro120ArgfsTer4 | |
| NR_156488.2:n.438_457dup |