Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6031519dup , CM000674.2:g.6031519dup | GRCh38 |
| NC_000012.11:g.6140685dup , CM000674.1:g.6140685dup | GRCh37 |
| NC_000012.10:g.6010946dup | NCBI36 |
| NG_009072.1:g.98153dup | |
| NG_009072.2:g.98153dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2746dup MANE Select | ENSP00000261405.5:p.His916ProfsTer20 | |
| ENST00000261405.9:c.2746dup | ENSP00000261405.5:p.His916ProfsTer20 | |
| ENST00000538635.5:n.421-37584dup | ||
| NM_000552.3:c.2746dup | NP_000543.2:p.His916ProfsTer20 | |
| NM_000552.4:c.2746dup | NP_000543.2:p.His916ProfsTer20 | |
| NM_000552.5:c.2746dup MANE Select | NP_000543.3:p.His916ProfsTer20 |