Linked Data
dbSNP Id:
rs757377467
ExAC:
1:76215293 TTAAA / T
gnomAD v2:
1-76215293-TTAAA-T
gnomAD v3:
1-75749608-TTAAA-T
gnomAD v4:
1-75749608-TTAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749612_75749615del , CM000663.2:g.75749612_75749615del | GRCh38 |
| NC_000001.10:g.76215297_76215300del , CM000663.1:g.76215297_76215300del | GRCh37 |
| NC_000001.9:g.75987885_75987888del | NCBI36 |
| NG_007045.2:g.30255_30258del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.849+53_849+56del MANE Select | ENSP00000359878.5:n.849+53_849+56del | |
| ENST00000473018.3:n.2973+53_2973+56del | ||
| ENST00000532207.6:n.1738+53_1738+56del | ||
| ENST00000541113.6:c.849+53_849+56del | ENSP00000442324.2:n.849+53_849+56del | |
| ENST00000679509.1:n.1811+53_1811+56del | ||
| ENST00000679530.1:c.*617+53_*617+56del | ENSP00000506454.1:n.*617+53_*617+56del | |
| ENST00000679615.1:n.2864+53_2864+56del | ||
| ENST00000679687.1:c.411+53_411+56del | ENSP00000506598.1:n.411+53_411+56del | |
| ENST00000679704.1:c.*615+53_*615+56del | ENSP00000505117.1:n.*615+53_*615+56del | |
| ENST00000679709.1:c.*812+53_*812+56del | ENSP00000506623.1:n.*812+53_*812+56del | |
| ENST00000679976.1:c.*433+53_*433+56del | ENSP00000505565.1:n.*433+53_*433+56del | |
| ENST00000680166.1:n.4138+53_4138+56del | ||
| ENST00000680517.1:c.*237+53_*237+56del | ENSP00000505803.1:n.*237+53_*237+56del | |
| ENST00000680582.1:n.1811+53_1811+56del | ||
| ENST00000680613.1:c.*220+53_*220+56del | ENSP00000506114.1:n.*220+53_*220+56del | |
| ENST00000680662.1:c.*763+53_*763+56del | ENSP00000505080.1:n.*763+53_*763+56del | |
| ENST00000680691.1:c.*512+53_*512+56del | ENSP00000506487.1:n.*512+53_*512+56del | |
| ENST00000680694.1:c.*437+53_*437+56del | ENSP00000505658.1:n.*437+53_*437+56del | |
| ENST00000680743.1:c.*516+53_*516+56del | ENSP00000505073.1:n.*516+53_*516+56del | |
| ENST00000680749.1:c.*134+53_*134+56del | ENSP00000505122.1:n.*134+53_*134+56del | |
| ENST00000680798.1:c.*324+53_*324+56del | ENSP00000505670.1:n.*324+53_*324+56del | |
| ENST00000680805.1:c.709-839_709-836del | ENSP00000505447.1:n.709-839_709-836del | |
| ENST00000680844.1:c.*633+53_*633+56del | ENSP00000506541.1:n.*633+53_*633+56del | |
| ENST00000680948.1:c.*716+53_*716+56del | ENSP00000505441.1:n.*716+53_*716+56del | |
| ENST00000680964.1:c.849+53_849+56del | ENSP00000505961.1:n.849+53_849+56del | |
| ENST00000681037.1:c.*2333+53_*2333+56del | ENSP00000506025.1:n.*2333+53_*2333+56del | |
| ENST00000681063.1:c.600-839_600-836del | ENSP00000506616.1:n.600-839_600-836del | |
| ENST00000681209.1:c.*504+53_*504+56del | ENSP00000505877.1:n.*504+53_*504+56del | |
| ENST00000681278.1:n.1206+53_1206+56del | ||
| ENST00000681289.1:n.4844+53_4844+56del | ||
| ENST00000681361.1:c.*516+53_*516+56del | ENSP00000506679.1:n.*516+53_*516+56del | |
| ENST00000681430.1:c.849+53_849+56del | ENSP00000506301.1:n.849+53_849+56del | |
| ENST00000681446.1:c.*431+53_*431+56del | ENSP00000506244.1:n.*431+53_*431+56del | |
| ENST00000681450.1:c.*520+53_*520+56del | ENSP00000505660.1:n.*520+53_*520+56del | |
| ENST00000681548.1:c.*435+53_*435+56del | ENSP00000505275.1:n.*435+53_*435+56del | |
| ENST00000681616.1:c.*508+53_*508+56del | ENSP00000505111.1:n.*508+53_*508+56del | |
| ENST00000681621.1:c.*433+53_*433+56del | ENSP00000505770.1:n.*433+53_*433+56del | |
| ENST00000681680.1:n.2944+53_2944+56del | ||
| ENST00000681720.1:c.*304+53_*304+56del | ENSP00000505438.1:n.*304+53_*304+56del | |
| ENST00000681730.1:n.1071+53_1071+56del | ||
| ENST00000681790.1:c.591+53_591+56del | ENSP00000505130.1:n.591+53_591+56del | |
| ENST00000681837.1:n.1465+53_1465+56del | ||
| ENST00000681913.1:n.2973+53_2973+56del | ||
| ENST00000681916.1:c.*617+53_*617+56del | ENSP00000506477.1:n.*617+53_*617+56del | |
| ENST00000681930.1:n.2973+53_2973+56del | ||
| ENST00000370834.9:c.948+53_948+56del | ENSP00000359871.5:n.948+53_948+56del | |
| ENST00000370841.8:c.849+53_849+56del | ENSP00000359878.4:n.849+53_849+56del | |
| ENST00000420607.6:c.861+53_861+56del | ENSP00000409612.2:n.861+53_861+56del | |
| ENST00000525808.5:c.*435+53_*435+56del | ENSP00000434823.1:n.*435+53_*435+56del | |
| ENST00000526129.5:c.*633+53_*633+56del | ENSP00000434092.1:n.*633+53_*633+56del | |
| ENST00000526196.5:c.*617+53_*617+56del | ENSP00000431953.1:n.*617+53_*617+56del | |
| ENST00000528016.1:c.63+53_63+56del | ENSP00000434284.1:n.63+53_63+56del | |
| ENST00000529059.5:n.758+53_758+56del | ||
| ENST00000532207.5:n.579+53_579+56del | ||
| ENST00000534334.5:c.*433+53_*433+56del | ENSP00000435584.1:n.*433+53_*433+56del | |
| ENST00000541113.5:c.741+53_741+56del | ENSP00000442324.1:n.741+53_741+56del | |
| NM_000016.5:c.849+53_849+56del | NP_000007.1:n.849+53_849+56del | |
| NM_001127328.2:c.861+53_861+56del | NP_001120800.1:n.861+53_861+56del | |
| NM_001286042.1:c.741+53_741+56del | NP_001272971.1:n.741+53_741+56del | |
| NM_001286043.1:c.948+53_948+56del | NP_001272972.1:n.948+53_948+56del | |
| NM_001286044.1:c.282+53_282+56del | NP_001272973.1:n.282+53_282+56del | |
| NM_000016.6:c.849+53_849+56del MANE Select | NP_000007.1:n.849+53_849+56del | |
| NM_001127328.3:c.861+53_861+56del | NP_001120800.1:n.861+53_861+56del | |
| NM_001286042.2:c.741+53_741+56del | NP_001272971.1:n.741+53_741+56del | |
| NM_001286043.2:c.948+53_948+56del | NP_001272972.1:n.948+53_948+56del | |
| NM_001286044.2:c.282+53_282+56del | NP_001272973.1:n.282+53_282+56del |