Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.637459dup , CM000673.2:g.637459dup | GRCh38 |
| NC_000011.9:g.637459dup , CM000673.1:g.637459dup | GRCh37 |
| NC_000011.8:g.627459dup | NCBI36 |
| NG_021241.1:g.5155dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000797.4:c.155dup MANE Select | NP_000788.2:p.Asn52LysfsTer? |
| ENST00000176183.6:c.155dup MANE Select | ENSP00000176183.5:p.Asn52LysfsTer? |
| NM_000797.3:c.155dup | NP_000788.2:p.Asn52LysfsTer? |
| ENST00000176183.5:c.155dup | ENSP00000176183.5:p.Asn52LysfsTer? |