MyVariant.info:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23816708_23816717dup , CM000663.2:g.23816708_23816717dup | GRCh38 |
| NC_000001.10:g.24143198_24143207dup , CM000663.1:g.24143198_24143207dup | GRCh37 |
| NC_000001.9:g.24015785_24015794dup | NCBI36 |
| NG_013061.1:g.13745_13754dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.308_317dup MANE Select | ENSP00000363614.3:p.Thr107ProfsTer? | |
| ENST00000235958.4:c.131+3795_131+3804dup | ||
| ENST00000374487.6:c.*349_*358dup | ENSP00000363611.2:n.*349_*358dup | |
| ENST00000374490.7:c.308_317dup | ENSP00000363614.3:p.Thr107ProfsTer? | |
| ENST00000436439.6:c.308_317dup | ENSP00000389281.2:p.Thr107ProfsTer? | |
| ENST00000479458.1:n.47_56dup | ||
| ENST00000498698.1:n.114_123dup | ||
| ENST00000509389.5:n.320_329dup | ||
| ENST00000513148.1:n.309_318dup | ||
| NM_000191.2:c.308_317dup | NP_000182.2:p.Thr107ProfsTer? | |
| NM_001166059.1:c.308_317dup | NP_001159531.1:p.Thr107ProfsTer? | |
| NM_000191.3:c.308_317dup MANE Select | NP_000182.2:p.Thr107ProfsTer? | |
| NM_001166059.2:c.308_317dup | NP_001159531.1:p.Thr107ProfsTer? |