Linked Data
ClinVar Variation Id:
1424950
ClinVar RCV Id:
RCV001957293
dbSNP Id:
rs1266507622
gnomAD v3:
1-6470794-GCAGCAGCGGGTACTTGGTGAGCCGCT-G
gnomAD v4:
1-6470794-GCAGCAGCGGGTACTTGGTGAGCCGCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6470795_6470820del , CM000663.2:g.6470795_6470820del | GRCh38 |
| NC_000001.10:g.6530855_6530880del , CM000663.1:g.6530855_6530880del | GRCh37 |
| NC_000001.9:g.6453442_6453467del | NCBI36 |
| NG_007978.1:g.54190_54215del , LRG_262:g.54190_54215del | |
| NG_029910.1:g.376_401del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.1457_1482del | ENSP00000344570.5:p.Gln486ProfsTer? | |
| ENST00000377728.8:c.1457_1482del MANE Select | ENSP00000366957.3:p.Gln486ProfsTer? | |
| ENST00000377740.5:c.1457_1482del | ENSP00000366969.4:p.Gln486ProfsTer? | |
| ENST00000377748.6:c.1631_1656del | ENSP00000366977.2:p.Gln544ProfsTer? | |
| ENST00000400913.6:c.1457_1482del | ENSP00000383704.1:p.Gln486ProfsTer? | |
| ENST00000400915.8:c.1568_1593del | ENSP00000383706.4:p.Gln523ProfsTer? | |
| ENST00000489097.6:n.1933_1958del | ||
| ENST00000535355.6:c.1664_1689del | ENSP00000441445.1:p.Gln555ProfsTer? | |
| ENST00000537245.6:c.1568_1593del | ENSP00000439625.2:p.Gln523ProfsTer? | |
| ENST00000673471.2:c.1754_1779del | ENSP00000500749.1:p.Gln585ProfsTer? | |
| ENST00000674685.1:n.490_515del | ||
| ENST00000674790.1:c.*1669_*1694del | ENSP00000502815.1:n.*1669_*1694del | |
| ENST00000674943.1:n.119_144del | ||
| ENST00000675123.1:c.1457_1482del | ENSP00000502132.1:p.Gln486ProfsTer? | |
| ENST00000675548.1:c.*1285_*1310del | ENSP00000502684.1:n.*1285_*1310del | |
| ENST00000675694.1:c.1457_1482del | ENSP00000501925.1:p.Gln486ProfsTer? | |
| ENST00000340850.9:c.1457_1482del | ENSP00000344570.5:p.Gln486ProfsTer? | |
| ENST00000377725.5:c.1457_1482del | ENSP00000366954.1:p.Gln486ProfsTer? | |
| ENST00000377728.7:c.1457_1482del | ENSP00000366957.3:p.Gln486ProfsTer? | |
| ENST00000377732.5:c.1568_1593del | ENSP00000366961.1:p.Gln523ProfsTer? | |
| ENST00000377740.4:c.1688_1713del | ENSP00000366969.3:p.Gln563ProfsTer? | |
| ENST00000377748.5:c.1688_1713del | ENSP00000366977.1:p.Gln563ProfsTer? | |
| ENST00000400913.5:c.1457_1482del | ENSP00000383704.1:p.Gln486ProfsTer? | |
| ENST00000400915.7:c.1625_1650del | ENSP00000383706.3:p.Gln542ProfsTer? | |
| ENST00000487949.4:n.659_684del | ||
| ENST00000489097.5:n.1933_1958del | ||
| ENST00000535355.5:c.1664_1689del | ENSP00000441445.1:p.Gln555ProfsTer? | |
| ENST00000537245.5:c.1694_1719del | ENSP00000439625.1:p.Gln565ProfsTer? | |
| NM_001042663.1:c.1625_1650del | NP_001036128.1:p.Gln542ProfsTer? | |
| NM_001042664.1:c.1457_1482del | NP_001036129.1:p.Gln486ProfsTer? | |
| NM_001042665.1:c.1457_1482del | NP_001036130.1:p.Gln486ProfsTer? | |
| NM_001265592.1:c.1694_1719del | NP_001252521.1:p.Gln565ProfsTer? | |
| NM_001265593.1:c.1664_1689del | NP_001252522.1:p.Gln555ProfsTer? | |
| NM_001265594.1:c.1457_1482del | NP_001252523.1:p.Gln486ProfsTer? | |
| NM_020631.4:c.1457_1482del | NP_065682.2:p.Gln486ProfsTer? | |
| NM_198681.3:c.1688_1713del | NP_941374.2:p.Gln563ProfsTer? | |
| NM_001042663.2:c.1625_1650del | NP_001036128.1:p.Gln542ProfsTer? | |
| NM_001265594.2:c.1457_1482del | NP_001252523.1:p.Gln486ProfsTer? | |
| NM_020631.5:c.1457_1482del | NP_065682.2:p.Gln486ProfsTer? | |
| NM_001042663.3:c.1568_1593del | NP_001036128.2:p.Gln523ProfsTer? | |
| NM_001265592.2:c.1568_1593del | NP_001252521.2:p.Gln523ProfsTer? | |
| NM_020631.6:c.1457_1482del MANE Select | NP_065682.2:p.Gln486ProfsTer? | |
| NM_198681.4:c.1457_1482del | NP_941374.3:p.Gln486ProfsTer? |