ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5623012dup , CM000666.2:g.5623012dup | GRCh38 |
| NC_000004.11:g.5624739dup , CM000666.1:g.5624739dup | GRCh37 |
| NC_000004.10:g.5675640dup | NCBI36 |
| NG_015821.1:g.91540dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.2047-18dup MANE Select | ENSP00000342144.5:n.2047-18dup | |
| ENST00000310917.6:c.1807-18dup | ENSP00000311683.2:n.1807-18dup | |
| ENST00000344408.9:c.2047-18dup | ENSP00000342144.5:n.2047-18dup | |
| ENST00000475313.5:c.1807-18dup | ENSP00000431981.1:n.1807-18dup | |
| ENST00000509670.1:c.*440-18dup | ENSP00000423876.1:n.*440-18dup | |
| NM_001166136.1:c.1807-18dup | NP_001159608.1:n.1807-18dup | |
| NM_147127.4:c.2047-18dup | NP_667338.3:n.2047-18dup | |
| XM_011513392.1:c.2056-18dup | XP_011511694.1:n.2056-18dup | |
| XM_011513393.1:c.2056-18dup | XP_011511695.1:n.2056-18dup | |
| XM_011513394.1:c.1816-18dup | XP_011511696.1:n.1816-18dup | |
| XM_017007736.1:c.1807-18dup | XP_016863225.1:n.1807-18dup | |
| XM_017007737.1:c.1807-18dup | XP_016863226.1:n.1807-18dup | |
| XM_017007738.1:c.2047-18dup | XP_016863227.1:n.2047-18dup | |
| XM_017007739.1:c.367-18dup | XP_016863228.1:n.367-18dup | |
| XM_024453893.1:c.367-18dup | XP_024309661.1:n.367-18dup | |
| XR_001741141.1:n.2112-18dup | ||
| NM_147127.5:c.2047-18dup MANE Select | NP_667338.3:n.2047-18dup | |
| NM_001166136.2:c.1807-18dup | NP_001159608.1:n.1807-18dup |