Linked Data
ClinVar Variation Id:
2444780
ClinVar RCV Id:
RCV003154513
gnomAD v3:
16-9763522-C-CT
gnomAD v4:
16-9763522-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9763529dup , CM000678.2:g.9763529dup | GRCh38 |
| NC_000016.9:g.9857386dup , CM000678.1:g.9857386dup | GRCh37 |
| NC_000016.8:g.9764887dup | NCBI36 |
| NG_011812.1:g.424232dup | |
| NG_011812.2:g.424232dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.4021dup MANE Select | ENSP00000332549.3:p.Ser1341LysfsTer25 | |
| ENST00000535259.6:c.3302-95dup | ENSP00000441572.3:n.3302-95dup | |
| ENST00000636273.2:n.3366-95dup | ||
| ENST00000674742.1:c.3550dup | ENSP00000502200.1:p.Ser1184LysfsTer25 | |
| ENST00000675398.1:c.*1391dup | ENSP00000502752.1:n.*1391dup | |
| ENST00000330684.3:c.4021dup | ENSP00000332549.3:p.Ser1341LysfsTer25 | |
| ENST00000396573.6:c.4021dup | ENSP00000379818.2:p.Ser1341LysfsTer25 | |
| ENST00000396575.6:c.3610dup | ENSP00000379820.3:p.Ser1204LysfsTer25 | |
| ENST00000461292.3:n.3412-95dup | ||
| ENST00000535259.5:c.3362-95dup | ENSP00000441572.2:n.3362-95dup | |
| ENST00000562109.5:c.3773-95dup | ENSP00000454998.1:n.3773-95dup | |
| NM_000833.4:c.4021dup | NP_000824.1:p.Ser1341LysfsTer25 | |
| NM_001134407.2:c.4021dup | NP_001127879.1:p.Ser1341LysfsTer25 | |
| NM_001134408.2:c.3773-95dup | NP_001127880.1:n.3773-95dup | |
| XM_011522456.1:c.3862dup | XP_011520758.1:p.Ser1288LysfsTer25 | |
| XM_011522457.1:c.3763dup | XP_011520759.1:p.Ser1255LysfsTer25 | |
| XM_011522458.1:c.3550dup | XP_011520760.1:p.Ser1184LysfsTer25 | |
| XM_011522459.1:c.3550dup | XP_011520761.1:p.Ser1184LysfsTer25 | |
| XM_011522460.1:c.3550dup | XP_011520762.1:p.Ser1184LysfsTer25 | |
| XM_011522461.1:c.3773-95dup | XP_011520763.1:n.3773-95dup | |
| XM_011522458.3:c.3550dup | XP_011520760.1:p.Ser1184LysfsTer25 | |
| XM_011522461.3:c.3773-95dup | XP_011520763.1:n.3773-95dup | |
| XM_017023172.1:c.4177dup | XP_016878661.1:p.Ser1393LysfsTer25 | |
| XM_017023173.1:c.3929-95dup | XP_016878662.1:n.3929-95dup | |
| NM_001134407.3:c.4021dup MANE Select | NP_001127879.1:p.Ser1341LysfsTer25 | |
| NM_000833.5:c.4021dup | NP_000824.1:p.Ser1341LysfsTer25 |