Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869251dup , CM000664.2:g.240869251dup | GRCh38 |
| NC_000002.11:g.241808668dup , CM000664.1:g.241808668dup | GRCh37 |
| NC_000002.10:g.241457341dup | NCBI36 |
| NG_008005.1:g.5507dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.247dup MANE Select | ENSP00000302620.3:p.His83ProfsTer? | |
| ENST00000307503.3:c.247dup | ENSP00000302620.3:p.His83ProfsTer? | |
| ENST00000472436.1:n.267dup | ||
| NM_000030.2:c.247dup | NP_000021.1:p.His83ProfsTer? | |
| XR_924060.1:n.405+982dup | ||
| NM_000030.3:c.247dup MANE Select | NP_000021.1:p.His83ProfsTer? |