Linked Data
ClinVar Variation Id:
3031151
ClinVar RCV Id:
RCV003896752
dbSNP Id:
rs1351158680
gnomAD v2:
16-31471168-G-GC
gnomAD v3:
16-31459847-G-GC
gnomAD v4:
16-31459847-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31459851dup , CM000678.2:g.31459851dup | GRCh38 |
| NC_000016.9:g.31471172dup , CM000678.1:g.31471172dup | GRCh37 |
| NC_000016.8:g.31378673dup | NCBI36 |
| NG_034258.1:g.6579dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268314.9:c.327dup MANE Select | ENSP00000268314.4:p.Ala110ArgfsTer9 | |
| ENST00000268314.8:c.327dup | ENSP00000268314.4:p.Ala110ArgfsTer9 | |
| ENST00000408912.7:c.612dup | ENSP00000386125.3:p.Ala205ArgfsTer9 | |
| ENST00000457010.6:c.327dup | ENSP00000399561.2:p.Ala110ArgfsTer9 | |
| ENST00000538189.5:c.-166dup | ENSP00000443995.2:n.-166dup | |
| ENST00000563544.5:c.327dup | ENSP00000456877.1:p.Ala110ArgfsTer9 | |
| NM_001105247.1:c.327dup | NP_001098717.1:p.Ala110ArgfsTer9 | |
| NM_001288767.1:c.612dup | NP_001275696.1:p.Ala205ArgfsTer9 | |
| NM_001301820.1:c.423dup | NP_001288749.1:p.Ala142ArgfsTer9 | |
| NM_024742.2:c.327dup | NP_079018.1:p.Ala110ArgfsTer9 | |
| XM_006721091.1:c.423dup | XP_006721154.1:p.Ala142ArgfsTer9 | |
| XM_006721091.3:c.423dup | XP_006721154.1:p.Ala142ArgfsTer9 | |
| XM_024450448.1:c.423dup | XP_024306216.1:p.Ala142ArgfsTer9 | |
| XM_024450449.1:c.423dup | XP_024306217.1:p.Ala142ArgfsTer9 | |
| NM_001105247.2:c.327dup MANE Select | NP_001098717.1:p.Ala110ArgfsTer9 | |
| NM_001288767.2:c.612dup | NP_001275696.1:p.Ala205ArgfsTer9 |