Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107908968_107908969dup , CM000668.2:g.107908968_107908969dup | GRCh38 |
| NC_000006.11:g.108230172_108230173dup , CM000668.1:g.108230172_108230173dup | GRCh37 |
| NC_000006.10:g.108336865_108336866dup | NCBI36 |
| NG_008270.1:g.54312_54313dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007214.5:c.693_694dup MANE Select | NP_009145.1:p.Thr232IlefsTer13 |
| ENST00000369002.9:c.693_694dup MANE Select | ENSP00000357998.4:p.Thr232IlefsTer13 |
| NM_007214.4:c.693_694dup | NP_009145.1:p.Thr232IlefsTer13 |
| ENST00000369002.8:c.693_694dup | ENSP00000357998.4:p.Thr232IlefsTer13 |
| ENST00000489455.1:n.193_194dup | |
| XM_011535399.1:c.525_526dup | XP_011533701.1:p.Thr176IlefsTer13 |
| XM_017010218.2:c.-402_-401dup | XP_016865707.1:n.-402_-401dup |