Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169504522dup , CM000664.2:g.169504522dup | GRCh38 |
| NC_000002.11:g.170361032dup , CM000664.1:g.170361032dup | GRCh37 |
| NC_000002.10:g.170069278dup | NCBI36 |
| NG_011567.1:g.30027dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295240.8:c.966dup MANE Select | ENSP00000295240.3:p.Ala323CysfsTer? | |
| ENST00000295240.7:c.966dup | ENSP00000295240.3:p.Ala323CysfsTer? | |
| ENST00000392663.6:c.903dup | ENSP00000376431.2:p.Ala302CysfsTer? | |
| ENST00000472667.1:n.737dup | ||
| ENST00000513963.1:c.924+196dup | ENSP00000424363.1:n.924+196dup | |
| NM_152384.2:c.966dup | NP_689597.1:p.Ala323CysfsTer? | |
| NM_152384.3:c.966dup MANE Select | NP_689597.1:p.Ala323CysfsTer? |