Linked Data
ClinVar Variation Id:
488617
ClinVar RCV Id:
RCV000578342
dbSNP Id:
rs1554192525
gnomAD v4:
6-13306445-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.13306449dup , CM000668.2:g.13306449dup | GRCh38 |
| NC_000006.11:g.13306681dup , CM000668.1:g.13306681dup | GRCh37 |
| NC_000006.10:g.13414660dup | NCBI36 |
| NG_033862.1:g.27138dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379300.8:c.747dup MANE Select | ENSP00000368602.3:p.Val250SerfsTer? | |
| ENST00000343141.8:c.609dup | ENSP00000343100.4:p.Val204SerfsTer? | |
| ENST00000356436.8:c.747dup | ENSP00000348813.4:p.Val250SerfsTer? | |
| ENST00000379300.7:c.747dup | ENSP00000368602.3:p.Val250SerfsTer? | |
| ENST00000379307.6:c.666dup | ENSP00000368609.2:p.Val223SerfsTer? | |
| ENST00000421203.6:c.519+10125dup | ENSP00000401438.2:n.519+10125dup | |
| ENST00000422136.5:c.747dup | ||
| ENST00000450347.5:c.666dup | ENSP00000404680.1:p.Val223SerfsTer? | |
| ENST00000452989.5:c.666dup | ENSP00000414292.1:p.Val223SerfsTer? | |
| ENST00000606214.5:c.747dup | ENSP00000475727.1:p.Val250SerfsTer? | |
| ENST00000607658.5:c.*70dup | ENSP00000475191.1:n.*70dup | |
| NM_001143964.3:c.747dup | NP_001137436.1:p.Val250SerfsTer? | |
| NM_001143965.3:c.747dup | NP_001137437.1:p.Val250SerfsTer? | |
| NM_001143966.3:c.666dup | NP_001137438.1:p.Val223SerfsTer? | |
| NM_001258457.2:c.609dup | NP_001245386.1:p.Val204SerfsTer? | |
| NM_016495.5:c.747dup | NP_057579.1:p.Val250SerfsTer? | |
| XM_005249163.2:c.747dup | XP_005249220.1:p.Val250SerfsTer? | |
| XM_005249164.1:c.747dup | XP_005249221.1:p.Val250SerfsTer? | |
| XM_005249166.1:c.666dup | XP_005249223.1:p.Val223SerfsTer? | |
| XM_005249167.1:c.666dup | XP_005249224.1:p.Val223SerfsTer? | |
| XM_011514652.1:c.747dup | XP_011512954.1:p.Val250SerfsTer? | |
| XM_011514653.1:c.666dup | XP_011512955.1:p.Val223SerfsTer? | |
| XM_011514654.1:c.609dup | XP_011512956.1:p.Val204SerfsTer? | |
| XR_926241.1:n.1047dup | ||
| NM_001318805.1:c.747dup | NP_001305734.1:p.Val250SerfsTer? | |
| NM_001318809.1:c.747dup | NP_001305738.1:p.Val250SerfsTer? | |
| NR_134872.1:n.655+10125dup | ||
| NM_016495.6:c.747dup MANE Select | NP_057579.1:p.Val250SerfsTer? | |
| NR_134872.2:n.609+10125dup | ||
| NM_001143964.4:c.747dup | NP_001137436.1:p.Val250SerfsTer? | |
| NM_001143965.4:c.747dup | NP_001137437.1:p.Val250SerfsTer? | |
| NM_001143966.4:c.666dup | NP_001137438.1:p.Val223SerfsTer? | |
| NM_001258457.3:c.609dup | NP_001245386.1:p.Val204SerfsTer? | |
| NM_001318805.2:c.747dup | NP_001305734.1:p.Val250SerfsTer? | |
| NM_001318809.2:c.747dup | NP_001305738.1:p.Val250SerfsTer? |