Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194507dup , CM000666.2:g.186194507dup | GRCh38 |
| NC_000004.11:g.187115661dup , CM000666.1:g.187115661dup | GRCh37 |
| NC_000004.10:g.187352655dup | NCBI36 |
| NG_007965.1:g.7988dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.222dup MANE Select | ENSP00000368079.4:p.Gln75SerfsTer5 | |
| ENST00000378802.4:c.222dup | ENSP00000368079.4:p.Gln75SerfsTer5 | |
| NM_207352.3:c.222dup | NP_997235.3:p.Gln75SerfsTer5 | |
| XM_005262935.2:c.222dup | XP_005262992.1:p.Gln75SerfsTer5 | |
| XM_005262935.4:c.222dup | XP_005262992.1:p.Gln75SerfsTer5 | |
| XM_017008037.1:c.-89dup | XP_016863526.1:n.-89dup | |
| NM_207352.4:c.222dup MANE Select | NP_997235.3:p.Gln75SerfsTer5 |