Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44388418dup , CM000667.2:g.44388418dup | GRCh38 |
| NC_000005.9:g.44388520dup , CM000667.1:g.44388520dup | GRCh37 |
| NC_000005.8:g.44424277dup | NCBI36 |
| NG_011446.1:g.5267dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264664.5:c.267dup MANE Select | ENSP00000264664.4:p.Leu90SerfsTer4 | |
| ENST00000264664.4:c.267dup | ENSP00000264664.4:p.Leu90SerfsTer4 | |
| NM_004465.1:c.267dup | NP_004456.1:p.Leu90SerfsTer4 | |
| XM_005248264.2:c.267dup | XP_005248321.1:p.Leu90SerfsTer4 | |
| XM_005248264.4:c.267dup | XP_005248321.1:p.Leu90SerfsTer4 | |
| NM_004465.2:c.267dup MANE Select | NP_004456.1:p.Leu90SerfsTer4 |