Linked Data
ClinVar Variation Id:
226077
ClinVar RCV Id:
RCV000211520
dbSNP Id:
rs875989864
gnomAD v2:
1-76216209-C-CT
gnomAD v4:
1-75750524-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75750527dup , CM000663.2:g.75750527dup | GRCh38 |
| NC_000001.10:g.76216212dup , CM000663.1:g.76216212dup | GRCh37 |
| NC_000001.9:g.75988800dup | NCBI36 |
| NG_007045.2:g.31170dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.926dup MANE Select | ENSP00000359878.5:p.Gly310ArgfsTer16 | |
| ENST00000473018.3:n.3050dup | ||
| ENST00000532207.6:n.1815dup | ||
| ENST00000541113.6:c.849+968dup | ENSP00000442324.2:n.849+968dup | |
| ENST00000679509.1:n.1888dup | ||
| ENST00000679530.1:c.*694dup | ENSP00000506454.1:n.*694dup | |
| ENST00000679615.1:n.2941dup | ||
| ENST00000679687.1:c.488dup | ENSP00000506598.1:p.Gly164ArgfsTer16 | |
| ENST00000679704.1:c.*692dup | ENSP00000505117.1:n.*692dup | |
| ENST00000679709.1:c.*889dup | ENSP00000506623.1:n.*889dup | |
| ENST00000679976.1:c.*510dup | ENSP00000505565.1:n.*510dup | |
| ENST00000680166.1:n.4215dup | ||
| ENST00000680315.1:n.809dup | ||
| ENST00000680517.1:c.*314dup | ENSP00000505803.1:n.*314dup | |
| ENST00000680582.1:n.1888dup | ||
| ENST00000680613.1:c.*297dup | ENSP00000506114.1:n.*297dup | |
| ENST00000680662.1:c.*840dup | ENSP00000505080.1:n.*840dup | |
| ENST00000680691.1:c.*589dup | ENSP00000506487.1:n.*589dup | |
| ENST00000680694.1:c.*514dup | ENSP00000505658.1:n.*514dup | |
| ENST00000680743.1:c.*593dup | ENSP00000505073.1:n.*593dup | |
| ENST00000680749.1:c.*211dup | ENSP00000505122.1:n.*211dup | |
| ENST00000680798.1:c.*401dup | ENSP00000505670.1:n.*401dup | |
| ENST00000680805.1:c.785dup | ENSP00000505447.1:p.Gly263ArgfsTer16 | |
| ENST00000680844.1:c.*710dup | ENSP00000506541.1:n.*710dup | |
| ENST00000680948.1:c.*793dup | ENSP00000505441.1:n.*793dup | |
| ENST00000680964.1:c.926dup | ENSP00000505961.1:p.Gly310ArgfsTer16 | |
| ENST00000681037.1:c.*2410dup | ENSP00000506025.1:n.*2410dup | |
| ENST00000681063.1:c.*73dup | ENSP00000506616.1:n.*73dup | |
| ENST00000681209.1:c.*581dup | ENSP00000505877.1:n.*581dup | |
| ENST00000681278.1:n.1283dup | ||
| ENST00000681289.1:n.4921dup | ||
| ENST00000681361.1:c.*593dup | ENSP00000506679.1:n.*593dup | |
| ENST00000681430.1:c.926dup | ENSP00000506301.1:p.Gly310ArgfsTer16 | |
| ENST00000681446.1:c.*508dup | ENSP00000506244.1:n.*508dup | |
| ENST00000681450.1:c.*597dup | ENSP00000505660.1:n.*597dup | |
| ENST00000681548.1:c.*512dup | ENSP00000505275.1:n.*512dup | |
| ENST00000681616.1:c.*585dup | ENSP00000505111.1:n.*585dup | |
| ENST00000681621.1:c.*510dup | ENSP00000505770.1:n.*510dup | |
| ENST00000681680.1:n.3021dup | ||
| ENST00000681720.1:c.*381dup | ENSP00000505438.1:n.*381dup | |
| ENST00000681730.1:n.1148dup | ||
| ENST00000681790.1:c.668dup | ENSP00000505130.1:p.Gly224ArgfsTer16 | |
| ENST00000681837.1:n.1542dup | ||
| ENST00000681913.1:n.3050dup | ||
| ENST00000681916.1:c.*694dup | ENSP00000506477.1:n.*694dup | |
| ENST00000681930.1:n.3050dup | ||
| ENST00000370834.9:c.1025dup | ENSP00000359871.5:p.Gly343ArgfsTer16 | |
| ENST00000370841.8:c.926dup | ENSP00000359878.4:p.Gly310ArgfsTer16 | |
| ENST00000420607.6:c.938dup | ENSP00000409612.2:p.Gly314ArgfsTer16 | |
| ENST00000481374.1:n.77dup | ||
| ENST00000525808.5:c.*512dup | ENSP00000434823.1:n.*512dup | |
| ENST00000526129.5:c.*710dup | ENSP00000434092.1:n.*710dup | |
| ENST00000526196.5:c.*694dup | ENSP00000431953.1:n.*694dup | |
| ENST00000528016.1:c.140dup | ENSP00000434284.1:p.Gly48ArgfsTer? | |
| ENST00000529059.5:n.835dup | ||
| ENST00000532207.5:n.656dup | ||
| ENST00000534334.5:c.*510dup | ENSP00000435584.1:n.*510dup | |
| ENST00000541113.5:c.818dup | ENSP00000442324.1:p.Gly274ArgfsTer16 | |
| NM_000016.5:c.926dup | NP_000007.1:p.Gly310ArgfsTer16 | |
| NM_001127328.2:c.938dup | NP_001120800.1:p.Gly314ArgfsTer16 | |
| NM_001286042.1:c.818dup | NP_001272971.1:p.Gly274ArgfsTer16 | |
| NM_001286043.1:c.1025dup | NP_001272972.1:p.Gly343ArgfsTer16 | |
| NM_001286044.1:c.359dup | NP_001272973.1:p.Gly121ArgfsTer16 | |
| NM_000016.6:c.926dup MANE Select | NP_000007.1:p.Gly310ArgfsTer16 | |
| NM_001127328.3:c.938dup | NP_001120800.1:p.Gly314ArgfsTer16 | |
| NM_001286042.2:c.818dup | NP_001272971.1:p.Gly274ArgfsTer16 | |
| NM_001286043.2:c.1025dup | NP_001272972.1:p.Gly343ArgfsTer16 | |
| NM_001286044.2:c.359dup | NP_001272973.1:p.Gly121ArgfsTer16 |