Linked Data
ClinVar Variation Id:
2804488
ClinVar RCV Id:
RCV003684092
dbSNP Id:
rs1386935097
gnomAD v2:
17-73518028-C-CG
gnomAD v4:
17-75521947-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75521950dup , CM000679.2:g.75521950dup | GRCh38 |
| NC_000017.10:g.73518031dup , CM000679.1:g.73518031dup | GRCh37 |
| NC_000017.9:g.71029626dup | NCBI36 |
| NG_013041.1:g.10423dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.869dup MANE Select | ENSP00000327487.6:p.Ala291SerfsTer3 | |
| ENST00000434205.8:c.566dup | ENSP00000406559.4:p.Ala190SerfsTer3 | |
| ENST00000545228.3:c.869dup | ENSP00000438169.3:p.Ala291SerfsTer3 | |
| ENST00000579449.2:n.668dup | ||
| ENST00000580013.6:n.1072dup | ||
| ENST00000679370.1:n.1450dup | ||
| ENST00000679429.1:c.*327dup | ENSP00000505403.1:n.*327dup | |
| ENST00000679443.1:n.938dup | ||
| ENST00000679782.1:c.869dup | ENSP00000505995.1:p.Ala291SerfsTer3 | |
| ENST00000679919.1:n.938dup | ||
| ENST00000679928.1:c.*480dup | ENSP00000506071.1:n.*480dup | |
| ENST00000680528.1:n.894dup | ||
| ENST00000680999.1:c.869dup | ENSP00000504984.1:p.Ala291SerfsTer3 | |
| ENST00000681282.1:c.*115dup | ENSP00000506339.1:n.*115dup | |
| ENST00000333213.10:c.869dup | ENSP00000327487.6:p.Ala291SerfsTer3 | |
| ENST00000578415.1:c.829dup | ||
| ENST00000583173.5:c.459-57dup | ENSP00000463619.1:n.459-57dup | |
| NM_207346.2:c.869dup | NP_997229.2:p.Ala291SerfsTer3 | |
| XM_005257229.2:c.869dup | XP_005257286.1:p.Ala291SerfsTer3 | |
| XM_006721821.2:c.566dup | XP_006721884.1:p.Ala190SerfsTer3 | |
| XM_011524616.1:c.869dup | XP_011522918.1:p.Ala291SerfsTer3 | |
| XM_011524617.1:c.869dup | XP_011522919.1:p.Ala291SerfsTer3 | |
| XM_011524618.1:c.869dup | XP_011522920.1:p.Ala291SerfsTer3 | |
| XR_243646.2:n.899dup | ||
| XM_005257229.4:c.869dup | XP_005257286.1:p.Ala291SerfsTer3 | |
| XR_243646.4:n.905dup | ||
| NM_207346.3:c.869dup MANE Select | NP_997229.2:p.Ala291SerfsTer3 |