Linked Data
ClinVar Variation Id:
530754
dbSNP Id:
rs760237820
ExAC:
8:90965662 T / TC
gnomAD v2:
8-90965662-T-TC
gnomAD v3:
8-89953434-T-TC
gnomAD v4:
8-89953434-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89953437dup , CM000670.2:g.89953437dup | GRCh38 |
| NC_000008.10:g.90965665dup , CM000670.1:g.90965665dup | GRCh37 |
| NC_000008.9:g.91034841dup | NCBI36 |
| NG_008860.1:g.36237dup , LRG_158:g.36237dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2956dup | ||
| ENST00000517337.2:c.1408dup | ENSP00000429971.2:p.Glu470GlyfsTer4 | |
| ENST00000523444.2:c.1408dup | ENSP00000428252.2:p.Glu470GlyfsTer4 | |
| ENST00000697292.1:c.1654dup | ENSP00000513229.1:p.Glu552GlyfsTer4 | |
| ENST00000697293.1:c.1654dup | ENSP00000513230.1:p.Glu552GlyfsTer4 | |
| ENST00000697294.1:c.*1265dup | ENSP00000513231.1:n.*1265dup | |
| ENST00000697295.1:c.*963dup | ENSP00000513232.1:n.*963dup | |
| ENST00000697296.1:c.*1322dup | ENSP00000513233.1:n.*1322dup | |
| ENST00000697297.1:n.3439dup | ||
| ENST00000697298.1:c.1408dup | ENSP00000513234.1:p.Glu470GlyfsTer4 | |
| ENST00000697299.1:c.1408dup | ENSP00000513235.1:p.Glu470GlyfsTer4 | |
| ENST00000697300.1:c.*1258dup | ENSP00000513236.1:n.*1258dup | |
| ENST00000697301.1:c.*1175dup | ENSP00000513237.1:n.*1175dup | |
| ENST00000697302.1:c.*1175dup | ENSP00000513238.1:n.*1175dup | |
| ENST00000697303.1:c.*1258dup | ENSP00000513239.1:n.*1258dup | |
| ENST00000697304.1:c.1342dup | ENSP00000513240.1:p.Glu448GlyfsTer4 | |
| ENST00000697306.1:c.*654dup | ENSP00000513241.1:n.*654dup | |
| ENST00000697307.1:c.1654dup | ENSP00000513242.1:p.Glu552GlyfsTer4 | |
| ENST00000697308.1:c.1654dup | ENSP00000513243.1:p.Glu552GlyfsTer4 | |
| ENST00000697309.1:c.1654dup | ENSP00000513244.1:p.Glu552GlyfsTer4 | |
| ENST00000697310.1:c.1654dup | ENSP00000513245.1:p.Glu552GlyfsTer4 | |
| ENST00000697311.1:c.1654dup | ENSP00000513246.1:p.Glu552GlyfsTer4 | |
| ENST00000697312.1:c.*1052dup | ENSP00000513247.1:n.*1052dup | |
| ENST00000697313.1:n.2687+16929dup | ||
| ENST00000697314.1:n.3445dup | ||
| ENST00000697315.1:c.1654dup | ENSP00000513248.1:p.Glu552GlyfsTer4 | |
| ENST00000697316.1:n.1775dup | ||
| ENST00000697317.1:n.1764dup | ||
| ENST00000697318.1:n.1766dup | ||
| ENST00000265433.8:c.1654dup MANE Select | ENSP00000265433.4:p.Glu552GlyfsTer4 | |
| ENST00000265433.7:c.1654dup | ENSP00000265433.3:p.Glu552GlyfsTer4 | |
| ENST00000396252.6:c.*1527dup | ENSP00000379551.2:n.*1527dup | |
| ENST00000409330.5:c.1408dup | ENSP00000386924.1:p.Glu470GlyfsTer4 | |
| NM_001024688.2:c.1408dup | NP_001019859.1:p.Glu470GlyfsTer4 | |
| NM_002485.4:c.1654dup , LRG_158t1:c.1654dup | NP_002476.2:p.Glu552GlyfsTer4 | |
| XM_011517044.1:c.1630dup | XP_011515346.1:p.Glu544GlyfsTer4 | |
| XM_011517045.1:c.1408dup | XP_011515347.1:p.Glu470GlyfsTer4 | |
| XR_928335.1:n.1793dup | ||
| XM_017013460.1:c.775dup | XP_016868949.1:p.Glu259GlyfsTer4 | |
| XM_017013462.2:c.775dup | XP_016868951.1:p.Glu259GlyfsTer4 | |
| XM_024447163.1:c.1408dup | XP_024302931.1:p.Glu470GlyfsTer4 | |
| XM_024447164.1:c.1408dup | XP_024302932.1:p.Glu470GlyfsTer4 | |
| XM_024447165.1:c.775dup | XP_024302933.1:p.Glu259GlyfsTer4 | |
| NM_002485.5:c.1654dup MANE Select | NP_002476.2:p.Glu552GlyfsTer4 | |
| NM_001024688.3:c.1408dup | NP_001019859.1:p.Glu470GlyfsTer4 |