Linked Data
ClinVar Variation Id:
208627
dbSNP Id:
rs863225459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53380686_53380689dup , CM000685.2:g.53380686_53380689dup | GRCh38 |
| NC_000023.10:g.53407607_53407610dup , CM000685.1:g.53407607_53407610dup | GRCh37 |
| NC_000023.9:g.53424332_53424335dup | NCBI36 |
| NG_006988.2:g.46982_46985dup , LRG_773:g.46982_46985dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322213.9:c.3549_3552dup MANE Select | ENSP00000323421.3:p.Ile1185GlyfsTer23 | |
| ENST00000674590.1:c.2781_2784dup | ENSP00000502626.1:p.Ile929GlyfsTer23 | |
| ENST00000675504.1:c.3483_3486dup | ENSP00000502524.1:p.Ile1163GlyfsTer23 | |
| ENST00000322213.8:c.3549_3552dup | ENSP00000323421.3:p.Ile1185GlyfsTer23 | |
| ENST00000375340.10:c.3483_3486dup | ENSP00000364489.7:p.Ile1163GlyfsTer23 | |
| ENST00000470241.2:c.769_772dup | ||
| NM_001281463.1:c.3483_3486dup , LRG_773t1:c.3483_3486dup | NP_001268392.1:p.Ile1163GlyfsTer23 | |
| NM_006306.3:c.3549_3552dup , LRG_773t2:c.3549_3552dup | NP_006297.2:p.Ile1185GlyfsTer23 | |
| NM_006306.4:c.3549_3552dup MANE Select | NP_006297.2:p.Ile1185GlyfsTer23 |