Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019394dup , CM000674.2:g.6019394dup | GRCh38 |
| NC_000012.11:g.6128560dup , CM000674.1:g.6128560dup | GRCh37 |
| NC_000012.10:g.5998821dup | NCBI36 |
| NG_009072.1:g.110277dup | |
| NG_009072.2:g.110277dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.4024dup MANE Select | NP_000543.3:p.Arg1342ProfsTer? |
| ENST00000261405.10:c.4024dup MANE Select | ENSP00000261405.5:p.Arg1342ProfsTer? |
| NM_000552.3:c.4024dup | NP_000543.2:p.Arg1342ProfsTer? |
| NM_000552.4:c.4024dup | NP_000543.2:p.Arg1342ProfsTer? |
| ENST00000261405.9:c.4024dup | ENSP00000261405.5:p.Arg1342ProfsTer? |
| ENST00000538635.5:n.421-25460dup |