Linked Data
ClinVar Variation Id:
2742557
ClinVar RCV Id:
RCV003502231
gnomAD v4:
1-75750432-T-TAATATCTTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75750435_75750443dup , CM000663.2:g.75750435_75750443dup | GRCh38 |
| NC_000001.10:g.76216120_76216128dup , CM000663.1:g.76216120_76216128dup | GRCh37 |
| NC_000001.9:g.75988708_75988716dup | NCBI36 |
| NG_007045.2:g.31078_31086dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.850-16_850-8dup MANE Select | ENSP00000359878.5:n.850-16_850-8dup | |
| ENST00000473018.3:n.2974-16_2974-8dup | ||
| ENST00000532207.6:n.1739-16_1739-8dup | ||
| ENST00000541113.6:c.849+876_849+884dup | ENSP00000442324.2:n.849+876_849+884dup | |
| ENST00000679509.1:n.1812-16_1812-8dup | ||
| ENST00000679530.1:c.*618-16_*618-8dup | ENSP00000506454.1:n.*618-16_*618-8dup | |
| ENST00000679615.1:n.2865-16_2865-8dup | ||
| ENST00000679687.1:c.412-16_412-8dup | ENSP00000506598.1:n.412-16_412-8dup | |
| ENST00000679704.1:c.*616-16_*616-8dup | ENSP00000505117.1:n.*616-16_*616-8dup | |
| ENST00000679709.1:c.*813-16_*813-8dup | ENSP00000506623.1:n.*813-16_*813-8dup | |
| ENST00000679976.1:c.*434-16_*434-8dup | ENSP00000505565.1:n.*434-16_*434-8dup | |
| ENST00000680166.1:n.4139-16_4139-8dup | ||
| ENST00000680315.1:n.717_725dup | ||
| ENST00000680517.1:c.*238-16_*238-8dup | ENSP00000505803.1:n.*238-16_*238-8dup | |
| ENST00000680582.1:n.1812-16_1812-8dup | ||
| ENST00000680613.1:c.*221-16_*221-8dup | ENSP00000506114.1:n.*221-16_*221-8dup | |
| ENST00000680662.1:c.*764-16_*764-8dup | ENSP00000505080.1:n.*764-16_*764-8dup | |
| ENST00000680691.1:c.*513-16_*513-8dup | ENSP00000506487.1:n.*513-16_*513-8dup | |
| ENST00000680694.1:c.*438-16_*438-8dup | ENSP00000505658.1:n.*438-16_*438-8dup | |
| ENST00000680743.1:c.*517-16_*517-8dup | ENSP00000505073.1:n.*517-16_*517-8dup | |
| ENST00000680749.1:c.*135-16_*135-8dup | ENSP00000505122.1:n.*135-16_*135-8dup | |
| ENST00000680798.1:c.*325-16_*325-8dup | ENSP00000505670.1:n.*325-16_*325-8dup | |
| ENST00000680805.1:c.709-16_709-8dup | ENSP00000505447.1:n.709-16_709-8dup | |
| ENST00000680844.1:c.*634-16_*634-8dup | ENSP00000506541.1:n.*634-16_*634-8dup | |
| ENST00000680948.1:c.*717-16_*717-8dup | ENSP00000505441.1:n.*717-16_*717-8dup | |
| ENST00000680964.1:c.850-16_850-8dup | ENSP00000505961.1:n.850-16_850-8dup | |
| ENST00000681037.1:c.*2334-16_*2334-8dup | ENSP00000506025.1:n.*2334-16_*2334-8dup | |
| ENST00000681063.1:c.600-16_600-8dup | ENSP00000506616.1:n.600-16_600-8dup | |
| ENST00000681209.1:c.*505-16_*505-8dup | ENSP00000505877.1:n.*505-16_*505-8dup | |
| ENST00000681278.1:n.1207-16_1207-8dup | ||
| ENST00000681289.1:n.4845-16_4845-8dup | ||
| ENST00000681361.1:c.*517-16_*517-8dup | ENSP00000506679.1:n.*517-16_*517-8dup | |
| ENST00000681430.1:c.850-16_850-8dup | ENSP00000506301.1:n.850-16_850-8dup | |
| ENST00000681446.1:c.*432-16_*432-8dup | ENSP00000506244.1:n.*432-16_*432-8dup | |
| ENST00000681450.1:c.*521-16_*521-8dup | ENSP00000505660.1:n.*521-16_*521-8dup | |
| ENST00000681548.1:c.*436-16_*436-8dup | ENSP00000505275.1:n.*436-16_*436-8dup | |
| ENST00000681616.1:c.*509-16_*509-8dup | ENSP00000505111.1:n.*509-16_*509-8dup | |
| ENST00000681621.1:c.*434-16_*434-8dup | ENSP00000505770.1:n.*434-16_*434-8dup | |
| ENST00000681680.1:n.2945-16_2945-8dup | ||
| ENST00000681720.1:c.*305-16_*305-8dup | ENSP00000505438.1:n.*305-16_*305-8dup | |
| ENST00000681730.1:n.1072-16_1072-8dup | ||
| ENST00000681790.1:c.592-16_592-8dup | ENSP00000505130.1:n.592-16_592-8dup | |
| ENST00000681837.1:n.1466-16_1466-8dup | ||
| ENST00000681913.1:n.2974-16_2974-8dup | ||
| ENST00000681916.1:c.*618-16_*618-8dup | ENSP00000506477.1:n.*618-16_*618-8dup | |
| ENST00000681930.1:n.2974-16_2974-8dup | ||
| ENST00000370834.9:c.949-16_949-8dup | ENSP00000359871.5:n.949-16_949-8dup | |
| ENST00000370841.8:c.850-16_850-8dup | ENSP00000359878.4:n.850-16_850-8dup | |
| ENST00000420607.6:c.862-16_862-8dup | ENSP00000409612.2:n.862-16_862-8dup | |
| ENST00000525808.5:c.*436-16_*436-8dup | ENSP00000434823.1:n.*436-16_*436-8dup | |
| ENST00000526129.5:c.*634-16_*634-8dup | ENSP00000434092.1:n.*634-16_*634-8dup | |
| ENST00000526196.5:c.*618-16_*618-8dup | ENSP00000431953.1:n.*618-16_*618-8dup | |
| ENST00000528016.1:c.64-16_64-8dup | ENSP00000434284.1:n.64-16_64-8dup | |
| ENST00000529059.5:n.759-16_759-8dup | ||
| ENST00000532207.5:n.580-16_580-8dup | ||
| ENST00000534334.5:c.*434-16_*434-8dup | ENSP00000435584.1:n.*434-16_*434-8dup | |
| ENST00000541113.5:c.742-16_742-8dup | ENSP00000442324.1:n.742-16_742-8dup | |
| NM_000016.5:c.850-16_850-8dup | NP_000007.1:n.850-16_850-8dup | |
| NM_001127328.2:c.862-16_862-8dup | NP_001120800.1:n.862-16_862-8dup | |
| NM_001286042.1:c.742-16_742-8dup | NP_001272971.1:n.742-16_742-8dup | |
| NM_001286043.1:c.949-16_949-8dup | NP_001272972.1:n.949-16_949-8dup | |
| NM_001286044.1:c.283-16_283-8dup | NP_001272973.1:n.283-16_283-8dup | |
| NM_000016.6:c.850-16_850-8dup MANE Select | NP_000007.1:n.850-16_850-8dup | |
| NM_001127328.3:c.862-16_862-8dup | NP_001120800.1:n.862-16_862-8dup | |
| NM_001286042.2:c.742-16_742-8dup | NP_001272971.1:n.742-16_742-8dup | |
| NM_001286043.2:c.949-16_949-8dup | NP_001272972.1:n.949-16_949-8dup | |
| NM_001286044.2:c.283-16_283-8dup | NP_001272973.1:n.283-16_283-8dup |