ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980904dup , CM000667.2:g.149980904dup | GRCh38 |
| NC_000005.9:g.149360467dup , CM000667.1:g.149360467dup | GRCh37 |
| NC_000005.8:g.149340660dup | NCBI36 |
| NG_007147.2:g.22022dup , LRG_684:g.22022dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1311dup MANE Select | ENSP00000286298.4:p.Ala438CysfsTer9 | |
| ENST00000286298.4:c.1311dup | ENSP00000286298.4:p.Ala438CysfsTer9 | |
| ENST00000503336.1:c.372+2553dup | ENSP00000426053.1:n.372+2553dup | |
| NM_000112.3:c.1311dup , LRG_684t1:c.1311dup | NP_000103.2:p.Ala438CysfsTer9 | |
| XM_017009191.2:c.1311dup | XP_016864680.1:p.Ala438CysfsTer9 | |
| NM_000112.4:c.1311dup MANE Select | NP_000103.2:p.Ala438CysfsTer9 |