Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46297854dup , CM000664.2:g.46297854dup | GRCh38 |
| NC_000002.11:g.46524993dup , CM000664.1:g.46524993dup | GRCh37 |
| NC_000002.10:g.46378497dup | NCBI36 |
| NG_016000.1:g.5453dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.-58dup MANE Select | NP_001421.2:n.-58dup |
| ENST00000263734.5:c.-58dup MANE Select | ENSP00000263734.3:n.-58dup |
| NM_001430.4:c.-58dup | NP_001421.2:n.-58dup |
| ENST00000263734.4:c.-58dup | ENSP00000263734.3:n.-58dup |
| ENST00000449347.5:c.-58dup | ENSP00000406137.1:n.-58dup |
| ENST00000460015.1:n.432+3756dup | |
| ENST00000467888.5:n.91dup | |
| XR_940055.1:n.2502-3702dup |