Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733668dup , CM000679.2:g.47733668dup | GRCh38 |
| NC_000017.10:g.45811034dup , CM000679.1:g.45811034dup | GRCh37 |
| NC_000017.9:g.43166033dup | NCBI36 |
| NG_012166.1:g.5425dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.214dup MANE Select | ENSP00000177694.1:p.Leu72ProfsTer? | |
| ENST00000177694.1:c.214dup | ENSP00000177694.1:p.Leu72ProfsTer? | |
| ENST00000581328.1:n.244dup | ||
| NM_013351.1:c.214dup | NP_037483.1:p.Leu72ProfsTer? | |
| XM_011524698.1:c.214dup | XP_011523000.1:p.Leu72ProfsTer? | |
| NM_013351.2:c.214dup MANE Select | NP_037483.1:p.Leu72ProfsTer? |