Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703261dup , CM000677.2:g.66703261dup | GRCh38 |
| NC_000015.9:g.66995599dup , CM000677.1:g.66995599dup | GRCh37 |
| NC_000015.8:g.64782653dup | NCBI36 |
| NG_012244.1:g.5926dup | |
| NG_012244.2:g.5926dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.3dup MANE Select | ENSP00000288840.5:p.Phe2ValfsTer? | |
| ENST00000288840.9:c.3dup | ENSP00000288840.5:p.Phe2ValfsTer? | |
| ENST00000557916.5:c.3dup | ENSP00000452955.1:p.Phe2ValfsTer? | |
| ENST00000612349.1:n.185dup | ||
| NM_005585.4:c.3dup | NP_005576.3:p.Phe2ValfsTer? | |
| NR_027654.1:n.926dup | ||
| XR_931825.1:n.1162dup | ||
| XR_931826.1:n.1162dup | ||
| XR_931827.1:n.1162dup | ||
| XR_931827.2:n.1152dup | ||
| NM_005585.5:c.3dup MANE Select | NP_005576.3:p.Phe2ValfsTer? | |
| NR_027654.2:n.1026dup |