Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38446769dup , CM000681.2:g.38446769dup | GRCh38 |
| NC_000019.9:g.38937409dup , CM000681.1:g.38937409dup | GRCh37 |
| NC_000019.8:g.43629249dup | NCBI36 |
| NG_008866.1:g.18070dup , LRG_766:g.18070dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.800+1dup | ||
| ENST00000359596.8:c.800+1dup | ||
| ENST00000355481.8:c.800+1dup | ||
| ENST00000359596.7:c.800+1dup | ||
| ENST00000360985.7:c.800+1dup | ||
| NM_000540.2:c.800+1dup , LRG_766t1:c.800+1dup | ||
| NM_001042723.1:c.800+1dup | ||
| XM_006723317.1:c.800+1dup | ||
| XM_006723319.1:c.800+1dup | ||
| XM_011527204.1:c.800+1dup | ||
| XM_011527205.1:c.800+1dup | ||
| XM_006723317.2:c.800+1dup | ||
| XM_006723319.2:c.800+1dup | ||
| XM_011527205.2:c.800+1dup | ||
| XR_001753735.1:n.883+1dup | ||
| NM_000540.3:c.800+1dup | ||
| NM_001042723.2:c.800+1dup |