Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172917_172918dup , CM000678.2:g.172917_172918dup | GRCh38 |
| NC_000016.9:g.222916_222917dup , CM000678.1:g.222916_222917dup | GRCh37 |
| NC_000016.8:g.162916_162917dup | NCBI36 |
| NG_000006.1:g.33780_33781dup | |
| NG_059186.1:g.1267_1268dup | |
| NG_059271.1:g.5071_5072dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.5_6dup MANE Select | ENSP00000251595.6:p.Leu3CysfsTer? | |
| ENST00000251595.10:c.5_6dup | ENSP00000251595.6:p.Leu3CysfsTer? | |
| ENST00000397806.1:c.-43_-42dup | ENSP00000380908.1:n.-43_-42dup | |
| ENST00000482565.1:n.24_25dup | ||
| NM_000517.4:c.5_6dup | NP_000508.1:p.Leu3CysfsTer? | |
| NM_000517.6:c.5_6dup MANE Select | NP_000508.1:p.Leu3CysfsTer? |