Linked Data
dbSNP Id:
rs753924802
ExAC:
1:76215278 C / CTTTTATTT
gnomAD v2:
1-76215278-C-CTTTTATTT
gnomAD v4:
1-75749593-C-CTTTTATTT
MyVariant Identifiers:
chr1:g.76215278_76215279insTTTTATTT (hg19)
chr1:g.75749593_75749594insTTTTATTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749594_75749601dup , CM000663.2:g.75749594_75749601dup | GRCh38 |
| NC_000001.10:g.76215279_76215286dup , CM000663.1:g.76215279_76215286dup | GRCh37 |
| NC_000001.9:g.75987867_75987874dup | NCBI36 |
| NG_007045.2:g.30237_30244dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.849+35_849+42dup MANE Select | ENSP00000359878.5:n.849+35_849+42dup | |
| ENST00000473018.3:n.2973+35_2973+42dup | ||
| ENST00000532207.6:n.1738+35_1738+42dup | ||
| ENST00000541113.6:c.849+35_849+42dup | ENSP00000442324.2:n.849+35_849+42dup | |
| ENST00000679509.1:n.1811+35_1811+42dup | ||
| ENST00000679530.1:c.*617+35_*617+42dup | ENSP00000506454.1:n.*617+35_*617+42dup | |
| ENST00000679615.1:n.2864+35_2864+42dup | ||
| ENST00000679687.1:c.411+35_411+42dup | ENSP00000506598.1:n.411+35_411+42dup | |
| ENST00000679704.1:c.*615+35_*615+42dup | ENSP00000505117.1:n.*615+35_*615+42dup | |
| ENST00000679709.1:c.*812+35_*812+42dup | ENSP00000506623.1:n.*812+35_*812+42dup | |
| ENST00000679976.1:c.*433+35_*433+42dup | ENSP00000505565.1:n.*433+35_*433+42dup | |
| ENST00000680166.1:n.4138+35_4138+42dup | ||
| ENST00000680517.1:c.*237+35_*237+42dup | ENSP00000505803.1:n.*237+35_*237+42dup | |
| ENST00000680582.1:n.1811+35_1811+42dup | ||
| ENST00000680613.1:c.*220+35_*220+42dup | ENSP00000506114.1:n.*220+35_*220+42dup | |
| ENST00000680662.1:c.*763+35_*763+42dup | ENSP00000505080.1:n.*763+35_*763+42dup | |
| ENST00000680691.1:c.*512+35_*512+42dup | ENSP00000506487.1:n.*512+35_*512+42dup | |
| ENST00000680694.1:c.*437+35_*437+42dup | ENSP00000505658.1:n.*437+35_*437+42dup | |
| ENST00000680743.1:c.*516+35_*516+42dup | ENSP00000505073.1:n.*516+35_*516+42dup | |
| ENST00000680749.1:c.*134+35_*134+42dup | ENSP00000505122.1:n.*134+35_*134+42dup | |
| ENST00000680798.1:c.*324+35_*324+42dup | ENSP00000505670.1:n.*324+35_*324+42dup | |
| ENST00000680805.1:c.709-857_709-850dup | ENSP00000505447.1:n.709-857_709-850dup | |
| ENST00000680844.1:c.*633+35_*633+42dup | ENSP00000506541.1:n.*633+35_*633+42dup | |
| ENST00000680948.1:c.*716+35_*716+42dup | ENSP00000505441.1:n.*716+35_*716+42dup | |
| ENST00000680964.1:c.849+35_849+42dup | ENSP00000505961.1:n.849+35_849+42dup | |
| ENST00000681037.1:c.*2333+35_*2333+42dup | ENSP00000506025.1:n.*2333+35_*2333+42dup | |
| ENST00000681063.1:c.600-857_600-850dup | ENSP00000506616.1:n.600-857_600-850dup | |
| ENST00000681209.1:c.*504+35_*504+42dup | ENSP00000505877.1:n.*504+35_*504+42dup | |
| ENST00000681278.1:n.1206+35_1206+42dup | ||
| ENST00000681289.1:n.4844+35_4844+42dup | ||
| ENST00000681361.1:c.*516+35_*516+42dup | ENSP00000506679.1:n.*516+35_*516+42dup | |
| ENST00000681430.1:c.849+35_849+42dup | ENSP00000506301.1:n.849+35_849+42dup | |
| ENST00000681446.1:c.*431+35_*431+42dup | ENSP00000506244.1:n.*431+35_*431+42dup | |
| ENST00000681450.1:c.*520+35_*520+42dup | ENSP00000505660.1:n.*520+35_*520+42dup | |
| ENST00000681548.1:c.*435+35_*435+42dup | ENSP00000505275.1:n.*435+35_*435+42dup | |
| ENST00000681616.1:c.*508+35_*508+42dup | ENSP00000505111.1:n.*508+35_*508+42dup | |
| ENST00000681621.1:c.*433+35_*433+42dup | ENSP00000505770.1:n.*433+35_*433+42dup | |
| ENST00000681680.1:n.2944+35_2944+42dup | ||
| ENST00000681720.1:c.*304+35_*304+42dup | ENSP00000505438.1:n.*304+35_*304+42dup | |
| ENST00000681730.1:n.1071+35_1071+42dup | ||
| ENST00000681790.1:c.591+35_591+42dup | ENSP00000505130.1:n.591+35_591+42dup | |
| ENST00000681837.1:n.1465+35_1465+42dup | ||
| ENST00000681913.1:n.2973+35_2973+42dup | ||
| ENST00000681916.1:c.*617+35_*617+42dup | ENSP00000506477.1:n.*617+35_*617+42dup | |
| ENST00000681930.1:n.2973+35_2973+42dup | ||
| ENST00000370834.9:c.948+35_948+42dup | ENSP00000359871.5:n.948+35_948+42dup | |
| ENST00000370841.8:c.849+35_849+42dup | ENSP00000359878.4:n.849+35_849+42dup | |
| ENST00000420607.6:c.861+35_861+42dup | ENSP00000409612.2:n.861+35_861+42dup | |
| ENST00000525808.5:c.*435+35_*435+42dup | ENSP00000434823.1:n.*435+35_*435+42dup | |
| ENST00000526129.5:c.*633+35_*633+42dup | ENSP00000434092.1:n.*633+35_*633+42dup | |
| ENST00000526196.5:c.*617+35_*617+42dup | ENSP00000431953.1:n.*617+35_*617+42dup | |
| ENST00000528016.1:c.63+35_63+42dup | ENSP00000434284.1:n.63+35_63+42dup | |
| ENST00000529059.5:n.758+35_758+42dup | ||
| ENST00000532207.5:n.579+35_579+42dup | ||
| ENST00000534334.5:c.*433+35_*433+42dup | ENSP00000435584.1:n.*433+35_*433+42dup | |
| ENST00000541113.5:c.741+35_741+42dup | ENSP00000442324.1:n.741+35_741+42dup | |
| NM_000016.5:c.849+35_849+42dup | NP_000007.1:n.849+35_849+42dup | |
| NM_001127328.2:c.861+35_861+42dup | NP_001120800.1:n.861+35_861+42dup | |
| NM_001286042.1:c.741+35_741+42dup | NP_001272971.1:n.741+35_741+42dup | |
| NM_001286043.1:c.948+35_948+42dup | NP_001272972.1:n.948+35_948+42dup | |
| NM_001286044.1:c.282+35_282+42dup | NP_001272973.1:n.282+35_282+42dup | |
| NM_000016.6:c.849+35_849+42dup MANE Select | NP_000007.1:n.849+35_849+42dup | |
| NM_001127328.3:c.861+35_861+42dup | NP_001120800.1:n.861+35_861+42dup | |
| NM_001286042.2:c.741+35_741+42dup | NP_001272971.1:n.741+35_741+42dup | |
| NM_001286043.2:c.948+35_948+42dup | NP_001272972.1:n.948+35_948+42dup | |
| NM_001286044.2:c.282+35_282+42dup | NP_001272973.1:n.282+35_282+42dup |