Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6023714_6023715delinsGG , CM000674.2:g.6023714_6023715delinsGG | GRCh38 |
| NC_000012.11:g.6132880_6132881delinsGG , CM000674.1:g.6132880_6132881delinsGG | GRCh37 |
| NC_000012.10:g.6003141_6003142delinsGG | NCBI36 |
| NG_009072.1:g.105956_105957delinsCC | |
| NG_009072.2:g.105956_105957delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3295_3296delinsCC MANE Select | ENSP00000261405.5:p.Cys1099Pro | |
| ENST00000261405.9:c.3295_3296delinsCC | ENSP00000261405.5:p.Cys1099Pro | |
| ENST00000538635.5:n.421-29781_421-29780delinsCC | ||
| NM_000552.3:c.3295_3296delinsCC | NP_000543.2:p.Cys1099Pro | |
| NM_000552.4:c.3295_3296delinsCC | NP_000543.2:p.Cys1099Pro | |
| NM_000552.5:c.3295_3296delinsCC MANE Select | NP_000543.3:p.Cys1099Pro |