ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66548989dup , CM000678.2:g.66548989dup | GRCh38 |
| NC_000016.9:g.66582892dup , CM000678.1:g.66582892dup | GRCh37 |
| NC_000016.8:g.65140393dup | NCBI36 |
| NG_016862.1:g.6429dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.57dup | ENSP00000299697.9:p.Ser20IlefsTer? | |
| ENST00000417693.8:c.150dup | ENSP00000407469.5:p.Ser51IlefsTer? | |
| ENST00000451102.7:c.57dup | ENSP00000414334.4:p.Ser20IlefsTer? | |
| ENST00000527284.6:c.94dup | ||
| ENST00000527800.6:c.-142dup | ENSP00000433770.1:n.-142dup | |
| ENST00000544898.6:c.150dup MANE Select | ENSP00000440898.2:p.Ser51IlefsTer? | |
| ENST00000567357.6:c.150dup | ENSP00000457959.2:p.Ser51IlefsTer28 | |
| ENST00000569718.6:c.57dup | ENSP00000464313.2:p.Ser20IlefsTer? | |
| ENST00000620035.5:c.150dup | ENSP00000483833.2:p.Ser51IlefsTer? | |
| ENST00000676536.1:c.26dup | ||
| ENST00000676538.1:c.26dup | ||
| ENST00000677124.1:n.26dup | ||
| ENST00000677412.1:c.26dup | ||
| ENST00000677420.1:c.-88dup | ENSP00000504648.1:n.-88dup | |
| ENST00000677541.1:c.26dup | ||
| ENST00000677555.1:c.-67dup | ENSP00000503331.1:n.-67dup | |
| ENST00000677715.1:c.-142dup | ENSP00000502950.1:n.-142dup | |
| ENST00000678015.1:c.-142dup | ENSP00000502959.1:n.-142dup | |
| ENST00000678205.1:c.26dup | ||
| ENST00000678297.1:c.-67dup | ENSP00000503472.1:n.-67dup | |
| ENST00000678314.1:c.-61+2556dup | ENSP00000504438.1:n.-61+2556dup | |
| ENST00000679154.1:c.26dup | ||
| ENST00000679271.1:n.56dup | ||
| ENST00000679327.1:n.1121dup | ||
| ENST00000299697.11:c.150dup | ENSP00000299697.8:p.Ser51IlefsTer? | |
| ENST00000417693.7:c.276dup | ENSP00000407469.4:p.Ser93IlefsTer? | |
| ENST00000451102.6:c.276dup | ENSP00000414334.3:p.Ser93IlefsTer? | |
| ENST00000525974.5:c.-142dup | ENSP00000434594.1:n.-142dup | |
| ENST00000527284.5:c.57dup | ENSP00000435312.1:p.Ser20IlefsTer? | |
| ENST00000527800.5:c.-142dup | ENSP00000433770.1:n.-142dup | |
| ENST00000544898.5:c.150dup | ENSP00000440898.2:p.Ser51IlefsTer? | |
| ENST00000545043.6:c.150dup | ENSP00000438143.2:p.Ser51IlefsTer? | |
| ENST00000562484.2:c.-142dup | ENSP00000463326.1:n.-142dup | |
| ENST00000563369.6:c.-142dup | ENSP00000463560.1:n.-142dup | |
| ENST00000563478.5:c.-142dup | ENSP00000462341.1:n.-142dup | |
| ENST00000564917.5:c.150dup | ENSP00000455187.1:p.Ser51IlefsTer? | |
| ENST00000567357.5:c.276dup | ENSP00000457959.1:p.Ser93IlefsTer28 | |
| ENST00000569718.5:c.44dup | ||
| ENST00000620035.4:c.150dup | ENSP00000483833.1:p.Ser51IlefsTer? | |
| NM_001172643.1:c.57dup | NP_001166114.1:p.Ser20IlefsTer? | |
| NM_001172644.1:c.150dup | NP_001166115.1:p.Ser51IlefsTer? | |
| NM_001172645.1:c.150dup | NP_001166116.1:p.Ser51IlefsTer? | |
| NM_001271934.1:c.-93dup | NP_001258863.1:n.-93dup | |
| NM_001271935.1:c.57dup | NP_001258864.1:p.Ser20IlefsTer? | |
| NM_001272050.1:c.-142dup | NP_001258979.1:n.-142dup | |
| NM_004614.4:c.150dup | NP_004605.4:p.Ser51IlefsTer? | |
| NR_073520.1:n.1429dup | ||
| NM_001172644.2:c.150dup | NP_001166115.1:p.Ser51IlefsTer? | |
| NM_001271934.2:c.-93dup | NP_001258863.1:n.-93dup | |
| NM_001272050.2:c.-142dup | NP_001258979.1:n.-142dup | |
| NM_004614.5:c.150dup MANE Select | NP_004605.4:p.Ser51IlefsTer? | |
| NR_073520.2:n.1139dup | ||
| NM_001172645.2:c.150dup | NP_001166116.1:p.Ser51IlefsTer? |