Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7524983dup , CM000681.2:g.7524983dup | GRCh38 |
| NC_000019.9:g.7589869dup , CM000681.1:g.7589869dup | GRCh37 |
| NC_000019.8:g.7495869dup | NCBI36 |
| NG_015806.1:g.7374dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.54dup MANE Select | NP_065394.1:p.Asn19GlnfsTer? |
| ENST00000264079.11:c.54dup MANE Select | ENSP00000264079.5:p.Asn19GlnfsTer? |
| NM_020533.2:c.54dup | NP_065394.1:p.Asn19GlnfsTer? |
| ENST00000264079.10:c.54dup | ENSP00000264079.5:p.Asn19GlnfsTer? |
| ENST00000394321.9:n.134dup | |
| ENST00000596390.1:n.170dup | |
| ENST00000601003.1:c.54dup | ENSP00000469074.1:p.Asn19GlnfsTer? |