Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46412725_46412728dup , CM000681.2:g.46412725_46412728dup | GRCh38 |
| NC_000019.9:g.46915982_46915985dup , CM000681.1:g.46915982_46915985dup | GRCh37 |
| NC_000019.8:g.51607822_51607825dup | NCBI36 |
| NG_031956.1:g.5935_5938dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032040.5:c.83_86dup MANE Select | NP_114429.2:p.Lys29AsnfsTer2 |
| ENST00000307522.5:c.83_86dup MANE Select | ENSP00000303158.3:p.Lys29AsnfsTer2 |
| NM_032040.4:c.83_86dup | NP_114429.2:p.Lys29AsnfsTer2 |
| ENST00000307522.3:c.83_86dup | ENSP00000303158.3:p.Lys29AsnfsTer2 |
| ENST00000697726.1:c.293_296dup | ENSP00000513420.1:p.Lys99AsnfsTer2 |