Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6072443dup , CM000674.2:g.6072443dup | GRCh38 |
| NC_000012.11:g.6181609dup , CM000674.1:g.6181609dup | GRCh37 |
| NC_000012.10:g.6051870dup | NCBI36 |
| NG_009072.1:g.57228dup | |
| NG_009072.2:g.57228dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.998-1dup MANE Select | ENSP00000261405.5:n.998-1dup | |
| ENST00000261405.9:c.998-1dup | ENSP00000261405.5:n.998-1dup | |
| ENST00000538635.5:n.420+38072dup | ||
| NM_000552.3:c.998-1dup | NP_000543.2:n.998-1dup | |
| NM_000552.4:c.998-1dup | NP_000543.2:n.998-1dup | |
| NM_000552.5:c.998-1dup MANE Select | NP_000543.3:n.998-1dup |