Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100187717dup , CM000663.2:g.100187717dup | GRCh38 |
| NC_000001.10:g.100653273dup , CM000663.1:g.100653273dup | GRCh37 |
| NC_000001.9:g.100425861dup | NCBI36 |
| NG_011852.2:g.67153dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001918.5:c.*8554dup MANE Select | NP_001909.4:n.*8554dup |
| ENST00000370132.8:c.*8554dup MANE Select | ENSP00000359151.3:n.*8554dup |
| NM_001399969.1:c.*8554dup | NP_001386898.1:n.*8554dup |
| NM_001399972.1:c.*8554dup | NP_001386901.1:n.*8554dup |
| NM_001918.3:c.*8554dup | NP_001909.3:n.*8554dup |
| NM_001918.4:c.*8554dup | NP_001909.3:n.*8554dup |
| NR_174363.1:n.9835dup | |
| NR_174364.1:n.10176dup | |
| NR_174365.1:n.9800dup | |
| NR_174366.1:n.10102dup |