Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073056_29073057dup , CM000664.2:g.29073056_29073057dup | GRCh38 |
| NC_000002.11:g.29295922_29295923dup , CM000664.1:g.29295922_29295923dup | GRCh37 |
| NC_000002.10:g.29149426_29149427dup | NCBI36 |
| NG_021427.1:g.6206_6207dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.1206_1207dup MANE Select | ENSP00000332809.4:p.Cys403SerfsTer? | |
| ENST00000331664.5:c.1206_1207dup | ENSP00000332809.4:p.Cys403SerfsTer? | |
| NM_001029883.2:c.1206_1207dup | NP_001025054.1:p.Cys403SerfsTer? | |
| XM_011532826.1:c.1206_1207dup | XP_011531128.1:p.Cys403SerfsTer? | |
| XR_939901.1:n.185+3889_185+3890dup | ||
| XR_939902.1:n.173+3901_173+3902dup | ||
| NM_001029883.3:c.1206_1207dup MANE Select | NP_001025054.1:p.Cys403SerfsTer? |