Linked Data
ClinVar Variation Id:
370160
ClinVar RCV Id:
RCV000410007
dbSNP Id:
rs1057516278
gnomAD v2:
1-76226974-T-TG
gnomAD v3:
1-75761289-T-TG
gnomAD v4:
1-75761289-T-TG
MyVariant Identifiers:
chr1:g.76226975dupG (hg19)
chr1:g.76226974_76226975insG (hg19)
chr1:g.75761290dupG (hg38)
chr1:g.75761289_75761290insG (hg38)
PubMed:
PMID:23028790
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761290dup , CM000663.2:g.75761290dup | GRCh38 |
| NC_000001.10:g.76226975dup , CM000663.1:g.76226975dup | GRCh37 |
| NC_000001.9:g.75999563dup | NCBI36 |
| NG_007045.2:g.41933dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1114dup MANE Select | ENSP00000359878.5:p.Ala372GlyfsTer11 | |
| ENST00000473018.3:n.3238dup | ||
| ENST00000532207.6:n.2125dup | ||
| ENST00000541113.6:c.1018dup | ENSP00000442324.2:p.Ala340GlyfsTer11 | |
| ENST00000679509.1:n.2076dup | ||
| ENST00000679530.1:c.*882dup | ENSP00000506454.1:n.*882dup | |
| ENST00000679615.1:n.3129dup | ||
| ENST00000679687.1:c.676dup | ENSP00000506598.1:p.Ala226GlyfsTer11 | |
| ENST00000679704.1:c.*880dup | ENSP00000505117.1:n.*880dup | |
| ENST00000679709.1:c.*1077dup | ENSP00000506623.1:n.*1077dup | |
| ENST00000679976.1:c.*698dup | ENSP00000505565.1:n.*698dup | |
| ENST00000680166.1:n.4403dup | ||
| ENST00000680315.1:n.997dup | ||
| ENST00000680517.1:c.*502dup | ENSP00000505803.1:n.*502dup | |
| ENST00000680582.1:n.2076dup | ||
| ENST00000680613.1:c.*607dup | ENSP00000506114.1:n.*607dup | |
| ENST00000680662.1:c.*1028dup | ENSP00000505080.1:n.*1028dup | |
| ENST00000680691.1:c.*777dup | ENSP00000506487.1:n.*777dup | |
| ENST00000680694.1:c.*702dup | ENSP00000505658.1:n.*702dup | |
| ENST00000680743.1:c.*903dup | ENSP00000505073.1:n.*903dup | |
| ENST00000680749.1:c.*399dup | ENSP00000505122.1:n.*399dup | |
| ENST00000680798.1:c.*589dup | ENSP00000505670.1:n.*589dup | |
| ENST00000680805.1:c.973dup | ENSP00000505447.1:p.Ala325GlyfsTer11 | |
| ENST00000680844.1:c.*898dup | ENSP00000506541.1:n.*898dup | |
| ENST00000680948.1:c.*981dup | ENSP00000505441.1:n.*981dup | |
| ENST00000680964.1:c.*207dup | ENSP00000505961.1:n.*207dup | |
| ENST00000681037.1:c.*2598dup | ENSP00000506025.1:n.*2598dup | |
| ENST00000681063.1:c.*383dup | ENSP00000506616.1:n.*383dup | |
| ENST00000681209.1:c.*769dup | ENSP00000505877.1:n.*769dup | |
| ENST00000681278.1:n.1816dup | ||
| ENST00000681289.1:n.5109dup | ||
| ENST00000681361.1:c.*781dup | ENSP00000506679.1:n.*781dup | |
| ENST00000681430.1:c.*207dup | ENSP00000506301.1:n.*207dup | |
| ENST00000681446.1:c.*818dup | ENSP00000506244.1:n.*818dup | |
| ENST00000681450.1:c.*785dup | ENSP00000505660.1:n.*785dup | |
| ENST00000681548.1:c.*700dup | ENSP00000505275.1:n.*700dup | |
| ENST00000681616.1:c.*773dup | ENSP00000505111.1:n.*773dup | |
| ENST00000681621.1:c.*698dup | ENSP00000505770.1:n.*698dup | |
| ENST00000681680.1:n.3209dup | ||
| ENST00000681720.1:c.*569dup | ENSP00000505438.1:n.*569dup | |
| ENST00000681730.1:n.1336dup | ||
| ENST00000681790.1:c.856dup | ENSP00000505130.1:p.Ala286GlyfsTer11 | |
| ENST00000681837.1:n.1730dup | ||
| ENST00000681913.1:n.3360dup | ||
| ENST00000681916.1:c.*882dup | ENSP00000506477.1:n.*882dup | |
| ENST00000681930.1:n.3238dup | ||
| ENST00000370834.9:c.1213dup | ENSP00000359871.5:p.Ala405GlyfsTer11 | |
| ENST00000370841.8:c.1114dup | ENSP00000359878.4:p.Ala372GlyfsTer11 | |
| ENST00000420607.6:c.1126dup | ENSP00000409612.2:p.Ala376GlyfsTer11 | |
| ENST00000481374.1:n.387dup | ||
| ENST00000525808.5:c.*700dup | ENSP00000434823.1:n.*700dup | |
| ENST00000526129.5:c.*898dup | ENSP00000434092.1:n.*898dup | |
| ENST00000526196.5:c.*882dup | ENSP00000431953.1:n.*882dup | |
| ENST00000528016.1:c.160-7887dup | ENSP00000434284.1:n.160-7887dup | |
| ENST00000529059.5:n.1023dup | ||
| ENST00000541113.5:c.1006dup | ENSP00000442324.1:p.Ala336GlyfsTer11 | |
| NM_000016.5:c.1114dup | NP_000007.1:p.Ala372GlyfsTer11 | |
| NM_001127328.2:c.1126dup | NP_001120800.1:p.Ala376GlyfsTer11 | |
| NM_001286042.1:c.1006dup | NP_001272971.1:p.Ala336GlyfsTer11 | |
| NM_001286043.1:c.1213dup | NP_001272972.1:p.Ala405GlyfsTer11 | |
| NM_001286044.1:c.547dup | NP_001272973.1:p.Ala183GlyfsTer11 | |
| NM_000016.6:c.1114dup MANE Select | NP_000007.1:p.Ala372GlyfsTer11 | |
| NM_001127328.3:c.1126dup | NP_001120800.1:p.Ala376GlyfsTer11 | |
| NM_001286042.2:c.1006dup | NP_001272971.1:p.Ala336GlyfsTer11 | |
| NM_001286043.2:c.1213dup | NP_001272972.1:p.Ala405GlyfsTer11 | |
| NM_001286044.2:c.547dup | NP_001272973.1:p.Ala183GlyfsTer11 |