Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59831806dup , CM000673.2:g.59831806dup | GRCh38 |
| NC_000011.9:g.59599279dup , CM000673.1:g.59599279dup | GRCh37 |
| NC_000011.8:g.59355855dup | NCBI36 |
| NG_008120.1:g.18703dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257248.3:c.1074-3dup MANE Select | ENSP00000257248.2:n.1074-3dup | |
| ENST00000257248.2:c.1074-3dup | ENSP00000257248.2:n.1074-3dup | |
| ENST00000525058.5:c.*1041-3dup | ENSP00000433196.1:n.*1041-3dup | |
| ENST00000533067.1:n.121-3dup | ||
| NM_005142.2:c.1074-3dup | NP_005133.2:n.1074-3dup | |
| XM_011544939.1:c.1032-3dup | XP_011543241.1:n.1032-3dup | |
| XM_011544939.3:c.1032-3dup | XP_011543241.1:n.1032-3dup | |
| NM_005142.3:c.1074-3dup MANE Select | NP_005133.2:n.1074-3dup |