Linked Data
dbSNP Id:
rs761990380
ExAC:
9:134398328 CCA / C
gnomAD v2:
9-134398328-CCA-C
gnomAD v4:
9-131522941-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522942_131522943del , CM000671.2:g.131522942_131522943del | GRCh38 |
| NC_000009.11:g.134398329_134398330del , CM000671.1:g.134398329_134398330del | GRCh37 |
| NC_000009.10:g.133388150_133388151del | NCBI36 |
| NG_008896.1:g.25041_25042del | |
| NG_008896.2:g.25041_25042del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1852_1853del | ENSP00000343034.7:p.Gln618GlufsTer? | |
| ENST00000404875.7:n.2554_2555del | ||
| ENST00000423007.6:c.2071_2072del | ENSP00000404119.2:p.Gln691GlufsTer? | |
| ENST00000677295.2:c.*2358_*2359del | ENSP00000504346.2:n.*2358_*2359del | |
| ENST00000678264.2:c.*2197_*2198del | ENSP00000503157.2:n.*2197_*2198del | |
| ENST00000682070.1:n.2324_2325del | ||
| ENST00000682639.1:c.11_12del | ||
| ENST00000682813.1:n.2411_2412del | ||
| ENST00000683231.1:c.11_12del | ||
| ENST00000683392.1:n.4606_4607del | ||
| ENST00000683712.1:n.2419_2420del | ||
| ENST00000683900.1:n.3914_3915del | ||
| ENST00000684062.1:n.2680_2681del | ||
| ENST00000684399.1:c.11_12del | ||
| ENST00000684579.1:n.3860_3861del | ||
| ENST00000341012.12:c.1852_1853del | ENSP00000343034.7:p.Gln618GlufsTer? | |
| ENST00000372220.5:c.883_884del | ENSP00000361294.5:p.Gln295GlufsTer? | |
| ENST00000372228.9:c.2080_2081del | ENSP00000361302.3:p.Gln694GlufsTer? | |
| ENST00000402686.8:c.2014_2015del MANE Select | ENSP00000385797.4:p.Gln672GlufsTer? | |
| ENST00000676640.1:c.2014_2015del | ENSP00000503281.1:p.Gln672GlufsTer? | |
| ENST00000676803.1:c.1075_1076del | ENSP00000503093.1:p.Gln359GlufsTer? | |
| ENST00000676835.1:c.*1229_*1230del | ENSP00000502911.1:n.*1229_*1230del | |
| ENST00000677029.1:c.1558_1559del | ENSP00000502936.1:p.Gln520GlufsTer? | |
| ENST00000677099.1:c.*1724_*1725del | ENSP00000504553.1:n.*1724_*1725del | |
| ENST00000677216.1:c.1663_1664del | ENSP00000503772.1:p.Gln555GlufsTer? | |
| ENST00000677221.1:n.1039_1040del | ||
| ENST00000677295.1:c.*1236_*1237del | ENSP00000504346.1:n.*1236_*1237del | |
| ENST00000677444.1:c.1959_1960del | ||
| ENST00000677586.1:n.1381_1382del | ||
| ENST00000677626.1:c.1663_1664del | ENSP00000503552.1:p.Gln555GlufsTer? | |
| ENST00000677853.1:c.*1022_*1023del | ENSP00000503488.1:n.*1022_*1023del | |
| ENST00000678264.1:c.*1391_*1392del | ENSP00000503157.1:n.*1391_*1392del | |
| ENST00000678303.1:c.1924_1925del | ENSP00000503696.1:p.Gln642GlufsTer? | |
| ENST00000678366.1:c.*2263_*2264del | ENSP00000504353.1:n.*2263_*2264del | |
| ENST00000678546.1:c.*1959_*1960del | ENSP00000503062.1:n.*1959_*1960del | |
| ENST00000678548.1:c.*2153_*2154del | ENSP00000503934.1:n.*2153_*2154del | |
| ENST00000678626.1:n.1850_1851del | ||
| ENST00000678739.1:c.*2180_*2181del | ENSP00000503806.1:n.*2180_*2181del | |
| ENST00000678833.1:c.*1766_*1767del | ENSP00000503893.1:n.*1766_*1767del | |
| ENST00000679023.1:c.1852_1853del | ENSP00000503718.1:p.Gln618GlufsTer? | |
| ENST00000679076.1:c.1633_1634del | ||
| ENST00000679111.1:c.*770_*771del | ENSP00000504257.1:n.*770_*771del | |
| ENST00000679189.1:c.1663_1664del | ENSP00000503356.1:p.Gln555GlufsTer? | |
| ENST00000341012.11:c.1852_1853del | ENSP00000343034.7:p.Gln618GlufsTer? | |
| ENST00000372220.4:c.877_878del | ENSP00000361294.4:p.Gln293GlufsTer? | |
| ENST00000372228.7:c.2080_2081del | ENSP00000361302.3:p.Gln694GlufsTer? | |
| ENST00000402686.7:c.2014_2015del | ENSP00000385797.3:p.Gln672GlufsTer? | |
| ENST00000404875.6:c.1663_1664del | ENSP00000384531.2:p.Gln555GlufsTer? | |
| ENST00000423007.5:c.2014_2015del | ENSP00000404119.1:p.Gln672GlufsTer? | |
| ENST00000485278.5:n.2564_2565del | ||
| NM_001077365.1:c.2014_2015del | NP_001070833.1:p.Gln672GlufsTer? | |
| NM_001077366.1:c.1852_1853del | NP_001070834.1:p.Gln618GlufsTer? | |
| NM_001136113.1:c.2014_2015del | NP_001129585.1:p.Gln672GlufsTer? | |
| NM_001136114.1:c.1663_1664del | NP_001129586.1:p.Gln555GlufsTer? | |
| NM_007171.3:c.2080_2081del | NP_009102.3:p.Gln694GlufsTer? | |
| XM_005272156.1:c.2080_2081del | XP_005272213.1:p.Gln694GlufsTer? | |
| XM_005272158.1:c.1918_1919del | XP_005272215.1:p.Gln640GlufsTer? | |
| XM_005272159.1:c.1729_1730del | XP_005272216.1:p.Gln577GlufsTer? | |
| XM_005272162.1:c.883_884del | XP_005272219.1:p.Gln295GlufsTer? | |
| XM_006716932.1:c.1729_1730del | XP_006716995.1:p.Gln577GlufsTer? | |
| XM_011518140.1:c.1933_1934del | XP_011516442.1:p.Gln645GlufsTer? | |
| XM_011518141.1:c.1867_1868del | XP_011516443.1:p.Gln623GlufsTer? | |
| XM_011518142.1:c.1771_1772del | XP_011516444.1:p.Gln591GlufsTer? | |
| XM_011518143.1:c.1765_1766del | XP_011516445.1:p.Gln589GlufsTer? | |
| XM_011518145.1:c.1624_1625del | XP_011516447.1:p.Gln542GlufsTer? | |
| XM_011518147.1:c.952_953del | XP_011516449.1:p.Gln318GlufsTer? | |
| XR_929703.1:n.2256_2257del | ||
| NM_001353193.1:c.2080_2081del | NP_001340122.1:p.Gln694GlufsTer? | |
| NM_001353194.1:c.1852_1853del | NP_001340123.1:p.Gln618GlufsTer? | |
| NM_001353195.1:c.1663_1664del | NP_001340124.1:p.Gln555GlufsTer? | |
| NM_001353196.1:c.1924_1925del | NP_001340125.1:p.Gln642GlufsTer? | |
| NM_001353197.1:c.1918_1919del | NP_001340126.1:p.Gln640GlufsTer? | |
| NM_001353198.1:c.1918_1919del | NP_001340127.1:p.Gln640GlufsTer? | |
| NM_001353199.1:c.1729_1730del | NP_001340128.1:p.Gln577GlufsTer? | |
| NM_001353200.1:c.1558_1559del | NP_001340129.1:p.Gln520GlufsTer? | |
| NR_148391.1:n.2064_2065del | ||
| NR_148392.1:n.2282_2283del | ||
| NR_148393.1:n.2203_2204del | ||
| NR_148394.1:n.1957_1958del | ||
| NR_148395.1:n.2355_2356del | ||
| NR_148396.1:n.1989_1990del | ||
| NR_148397.1:n.2114_2115del | ||
| NR_148398.1:n.2069_2070del | ||
| NR_148399.1:n.2595_2596del | ||
| NR_148400.1:n.2194_2195del | ||
| XM_005272162.3:c.883_884del | XP_005272219.1:p.Gln295GlufsTer? | |
| XM_006716932.2:c.1729_1730del | XP_006716995.1:p.Gln577GlufsTer? | |
| XM_011518140.2:c.1933_1934del | XP_011516442.1:p.Gln645GlufsTer? | |
| XM_011518141.2:c.1867_1868del | XP_011516443.1:p.Gln623GlufsTer? | |
| XM_011518142.2:c.1771_1772del | XP_011516444.1:p.Gln591GlufsTer? | |
| XM_011518143.2:c.1765_1766del | XP_011516445.1:p.Gln589GlufsTer? | |
| XM_011518145.2:c.1624_1625del | XP_011516447.1:p.Gln542GlufsTer? | |
| XM_017014205.2:c.883_884del | XP_016869694.1:p.Gln295GlufsTer? | |
| XM_024447380.1:c.883_884del | XP_024303148.1:p.Gln295GlufsTer? | |
| XM_024447381.1:c.1189_1190del | XP_024303149.1:p.Gln397GlufsTer? | |
| XM_024447382.1:c.883_884del | XP_024303150.1:p.Gln295GlufsTer? | |
| XR_001746160.2:n.2184_2185del | ||
| XR_001746162.2:n.2389_2390del | ||
| XR_001746164.1:n.2106_2107del | ||
| XR_001746166.2:n.2401_2402del | ||
| NM_001077365.2:c.2014_2015del MANE Select | NP_001070833.1:p.Gln672GlufsTer? | |
| NM_001077366.2:c.1852_1853del | NP_001070834.1:p.Gln618GlufsTer? | |
| NM_001136113.2:c.2014_2015del | NP_001129585.1:p.Gln672GlufsTer? | |
| NM_001136114.2:c.1663_1664del | NP_001129586.1:p.Gln555GlufsTer? | |
| NM_001353193.2:c.2080_2081del | NP_001340122.2:p.Gln694GlufsTer? | |
| NM_001353194.2:c.1852_1853del | NP_001340123.1:p.Gln618GlufsTer? | |
| NM_001353195.2:c.1663_1664del | NP_001340124.1:p.Gln555GlufsTer? | |
| NM_001353196.2:c.1924_1925del | NP_001340125.1:p.Gln642GlufsTer? | |
| NM_001353197.2:c.1918_1919del | NP_001340126.2:p.Gln640GlufsTer? | |
| NM_001353198.2:c.1918_1919del | NP_001340127.2:p.Gln640GlufsTer? | |
| NM_001353199.2:c.1729_1730del | NP_001340128.2:p.Gln577GlufsTer? | |
| NM_001353200.2:c.1558_1559del | NP_001340129.1:p.Gln520GlufsTer? | |
| NM_001374689.1:c.2002_2003del | NP_001361618.1:p.Gln668GlufsTer? | |
| NM_001374690.1:c.1795_1796del | NP_001361619.1:p.Gln599GlufsTer? | |
| NM_001374691.1:c.1663_1664del | NP_001361620.1:p.Gln555GlufsTer? | |
| NM_001374692.1:c.1663_1664del | NP_001361621.1:p.Gln555GlufsTer? | |
| NM_001374693.1:c.1663_1664del | NP_001361622.1:p.Gln555GlufsTer? | |
| NM_001374695.1:c.1624_1625del | NP_001361624.1:p.Gln542GlufsTer? | |
| NM_007171.4:c.2080_2081del | NP_009102.4:p.Gln694GlufsTer? | |
| NR_148391.2:n.2048_2049del | ||
| NR_148392.2:n.2266_2267del | ||
| NR_148393.2:n.2187_2188del | ||
| NR_148394.2:n.1941_1942del | ||
| NR_148395.2:n.2339_2340del | ||
| NR_148396.2:n.1973_1974del | ||
| NR_148397.2:n.2098_2099del | ||
| NR_148398.2:n.2053_2054del | ||
| NR_148399.2:n.2579_2580del | ||
| NR_148400.2:n.2178_2179del |