Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.140504323_140504355dup , CM000685.2:g.140504323_140504355dup | GRCh38 |
| NC_000023.10:g.139586488_139586520dup , CM000685.1:g.139586488_139586520dup | GRCh37 |
| NC_000023.9:g.139414154_139414186dup | NCBI36 |
| NG_009387.1:g.5712_5744dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005634.3:c.712_744dup MANE Select | NP_005625.2:p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA... |
| ENST00000370536.5:c.712_744dup MANE Select | ENSP00000359567.2:p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAlaAlaA... |
| NM_005634.2:c.712_744dup | NP_005625.2:p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA... |
| ENST00000370536.3:c.712_744dup | ENSP00000359567.2:p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAlaAlaA... |