Linked Data
ClinVar Variation Id:
180274
ClinVar RCV Id:
RCV000157113
dbSNP Id:
rs730880049
gnomAD v4:
4-113367728-AGGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.113367731_113367733del , CM000666.2:g.113367731_113367733del | GRCh38 |
| NC_000004.11:g.114288887_114288889del , CM000666.1:g.114288887_114288889del | GRCh37 |
| NC_000004.10:g.114508336_114508338del | NCBI36 |
| NG_009006.2:g.554649_554651del , LRG_327:g.554649_554651del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000506344.6:c.11339_11341del | ENSP00000422888.2:p.Gly3780del | |
| ENST00000705785.1:c.5024_5026del | ENSP00000516169.1:p.Gly1675del | |
| ENST00000510275.8:c.1625_1627del | ENSP00000421023.4:p.Gly542del | |
| ENST00000612754.2:c.2123_2125del | ENSP00000482888.2:p.Gly708del | |
| ENST00000681990.1:n.2580_2582del | ||
| ENST00000682049.1:n.1788_1790del | ||
| ENST00000682959.1:n.2532_2534del | ||
| ENST00000683389.1:n.1361_1363del | ||
| ENST00000683826.1:n.3323_3325del | ||
| ENST00000683893.1:n.1304_1306del | ||
| ENST00000683908.1:n.1697_1699del | ||
| ENST00000683972.1:n.8043_8045del | ||
| ENST00000684225.1:n.2669_2671del | ||
| ENST00000684378.1:n.653_655del | ||
| ENST00000684470.1:n.3087_3089del | ||
| ENST00000684730.1:n.1302_1304del | ||
| ENST00000357077.9:c.11198_11200del MANE Select | ENSP00000349588.4:p.Gly3733del | |
| ENST00000503423.6:c.11036_11038del | ENSP00000421011.2:p.Gly3679del | |
| ENST00000505342.6:c.2330_2332del | ENSP00000422498.2:p.Gly777del | |
| ENST00000510275.7:c.653_655del | ENSP00000421023.3:p.Gly218del | |
| ENST00000671704.1:c.4757_4759del | ENSP00000500926.1:p.Gly1586del | |
| ENST00000671727.1:c.4844_4846del | ENSP00000500102.1:p.Gly1615del | |
| ENST00000671756.1:c.4781_4783del | ENSP00000500712.1:p.Gly1594del | |
| ENST00000671762.1:c.4979_4981del | ENSP00000500954.1:p.Gly1660del | |
| ENST00000671793.1:c.4880_4882del | ENSP00000499928.1:p.Gly1627del | |
| ENST00000671809.1:c.11072_11074del | ENSP00000500872.1:p.Gly3691del | |
| ENST00000671825.1:c.4880_4882del | ENSP00000500459.1:p.Gly1627del | |
| ENST00000671854.1:c.4682_4684del | ENSP00000500833.1:p.Gly1561del | |
| ENST00000671863.1:c.*436_*438del | ENSP00000500855.1:n.*436_*438del | |
| ENST00000671882.1:c.11015_11017del | ENSP00000499887.1:p.Gly3672del | |
| ENST00000671893.1:c.4559_4561del | ENSP00000499986.1:p.Gly1520del | |
| ENST00000671906.1:c.11012_11014del | ENSP00000499953.1:p.Gly3671del | |
| ENST00000671951.1:c.4658_4660del | ENSP00000500528.1:p.Gly1553del | |
| ENST00000671971.1:c.11243_11245del | ENSP00000499832.1:p.Gly3748del | |
| ENST00000672045.1:c.4781_4783del | ENSP00000499959.1:p.Gly1594del | |
| ENST00000672068.1:c.11036_11038del | ENSP00000499902.1:p.Gly3679del | |
| ENST00000672088.1:c.4757_4759del | ENSP00000499837.1:p.Gly1586del | |
| ENST00000672090.1:c.11036_11038del | ENSP00000500540.1:p.Gly3679del | |
| ENST00000672177.1:c.4793_4795del | ENSP00000500918.1:p.Gly1598del | |
| ENST00000672209.1:c.11036_11038del | ENSP00000499982.1:p.Gly3679del | |
| ENST00000672221.1:c.4778_4780del | ENSP00000500473.1:p.Gly1593del | |
| ENST00000672240.1:c.11279_11281del | ENSP00000500548.1:p.Gly3760del | |
| ENST00000672246.1:c.4766_4768del | ENSP00000499990.1:p.Gly1589del | |
| ENST00000672251.1:c.11000_11002del | ENSP00000500580.1:p.Gly3667del | |
| ENST00000672312.1:c.4781_4783del | ENSP00000500378.1:p.Gly1594del | |
| ENST00000672315.1:c.4880_4882del | ENSP00000500780.1:p.Gly1627del | |
| ENST00000672350.1:c.4718_4720del | ENSP00000500420.1:p.Gly1573del | |
| ENST00000672356.1:c.4658_4660del | ENSP00000500544.1:p.Gly1553del | |
| ENST00000672362.1:c.4916_4918del | ENSP00000500522.1:p.Gly1639del | |
| ENST00000672366.1:c.4844_4846del | ENSP00000500937.1:p.Gly1615del | |
| ENST00000672402.1:c.4880_4882del | ENSP00000500881.1:p.Gly1627del | |
| ENST00000672411.1:c.2507_2509del | ENSP00000499979.1:p.Gly836del | |
| ENST00000672502.1:c.11099_11101del | ENSP00000499870.1:p.Gly3700del | |
| ENST00000672684.1:c.4682_4684del | ENSP00000499943.1:p.Gly1561del | |
| ENST00000672696.1:c.4880_4882del | ENSP00000499828.1:p.Gly1627del | |
| ENST00000672731.1:c.4757_4759del | ENSP00000500908.1:p.Gly1586del | |
| ENST00000672759.1:c.4658_4660del | ENSP00000499881.1:p.Gly1553del | |
| ENST00000672779.1:c.4988_4990del | ENSP00000499869.1:p.Gly1663del | |
| ENST00000672793.1:c.4781_4783del | ENSP00000500150.1:p.Gly1594del | |
| ENST00000672830.1:c.11135_11137del | ENSP00000500222.1:p.Gly3712del | |
| ENST00000672854.1:c.4745_4747del | ENSP00000500311.1:p.Gly1582del | |
| ENST00000672880.1:c.4781_4783del | ENSP00000500866.1:p.Gly1594del | |
| ENST00000672915.1:c.2330_2332del | ENSP00000500622.1:p.Gly777del | |
| ENST00000672930.1:c.11036_11038del | ENSP00000499913.1:p.Gly3679del | |
| ENST00000672934.1:c.10937_10939del | ENSP00000500645.1:p.Gly3646del | |
| ENST00000672955.1:c.4757_4759del | ENSP00000500527.1:p.Gly1586del | |
| ENST00000672965.1:c.4817_4819del | ENSP00000499891.1:p.Gly1606del | |
| ENST00000672986.1:c.4361_4363del | ENSP00000499967.1:p.Gly1454del | |
| ENST00000672990.1:c.4817_4819del | ENSP00000500275.1:p.Gly1606del | |
| ENST00000673044.1:c.4880_4882del | ENSP00000500933.1:p.Gly1627del | |
| ENST00000673048.1:c.2492_2494del | ENSP00000500832.1:p.Gly831del | |
| ENST00000673109.1:c.10913_10915del | ENSP00000500265.1:p.Gly3638del | |
| ENST00000673231.1:c.2507_2509del | ENSP00000500111.1:p.Gly836del | |
| ENST00000673240.1:c.4988_4990del | ENSP00000499996.1:p.Gly1663del | |
| ENST00000673255.1:c.4781_4783del | ENSP00000500423.1:p.Gly1594del | |
| ENST00000673298.1:c.11036_11038del | ENSP00000500245.1:p.Gly3679del | |
| ENST00000673334.1:c.11036_11038del | ENSP00000500854.1:p.Gly3679del | |
| ENST00000673353.1:c.2471_2473del | ENSP00000500007.1:p.Gly824del | |
| ENST00000673363.1:c.11144_11146del | ENSP00000500539.1:p.Gly3715del | |
| ENST00000673430.1:c.4781_4783del | ENSP00000500269.1:p.Gly1594del | |
| ENST00000673453.1:c.4709_4711del | ENSP00000500112.1:p.Gly1570del | |
| ENST00000673536.1:c.4451_4453del | ENSP00000500524.1:p.Gly1484del | |
| ENST00000673538.1:c.*436_*438del | ENSP00000500842.1:n.*436_*438del | |
| ENST00000673546.1:c.4718_4720del | ENSP00000500843.1:p.Gly1573del | |
| ENST00000673555.1:c.11036_11038del | ENSP00000500947.1:p.Gly3679del | |
| ENST00000673573.1:c.10973_10975del | ENSP00000500883.1:p.Gly3658del | |
| ENST00000264366.10:c.11099_11101del | ENSP00000264366.6:p.Gly3700del | |
| ENST00000357077.8:c.11198_11200del | ENSP00000349588.4:p.Gly3733del | |
| ENST00000394537.7:c.4943_4945del | ENSP00000378044.3:p.Gly1648del | |
| ENST00000505342.5:c.2228_2230del | ENSP00000422498.1:p.Gly743del | |
| ENST00000506722.5:c.4916_4918del | ENSP00000421067.1:p.Gly1639del | |
| ENST00000509550.5:c.2471_2473del | ENSP00000426944.1:p.Gly824del | |
| ENST00000510275.6:c.899_901del | ENSP00000421023.2:p.Gly300del | |
| ENST00000514960.5:c.1947_1949del | ||
| ENST00000612754.1:c.*2559_*2561del | ENSP00000482888.1:n.*2559_*2561del | |
| NM_001127493.1:c.4916_4918del , LRG_327t2:c.4916_4918del | NP_001120965.1:p.Gly1639del | |
| NM_001148.4:c.11198_11200del , LRG_327t1:c.11198_11200del | NP_001139.3:p.Gly3733del | |
| NM_020977.3:c.4943_4945del | NP_066187.2:p.Gly1648del | |
| XM_005262942.3:c.11231_11233del | XP_005262999.1:p.Gly3744del | |
| XM_005262945.1:c.11099_11101del | XP_005263002.1:p.Gly3700del | |
| XM_005262948.3:c.4940_4942del | XP_005263005.1:p.Gly1647del | |
| XM_006714188.2:c.11285_11287del | XP_006714251.1:p.Gly3762del | |
| XM_006714189.2:c.11249_11251del | XP_006714252.1:p.Gly3750del | |
| XM_006714190.2:c.4997_4999del | XP_006714253.1:p.Gly1666del | |
| XM_006714191.2:c.5030_5032del | XP_006714254.1:p.Gly1677del | |
| XM_006714192.2:c.4961_4963del | XP_006714255.1:p.Gly1654del | |
| XM_006714193.2:c.5030_5032del | XP_006714256.1:p.Gly1677del | |
| XM_006714194.2:c.11225_11227del | XP_006714257.1:p.Gly3742del | |
| XM_011531891.1:c.11270_11272del | XP_011530193.1:p.Gly3757del | |
| NM_001127493.2:c.4916_4918del | NP_001120965.1:p.Gly1639del | |
| NM_001148.5:c.11198_11200del | NP_001139.3:p.Gly3733del | |
| NM_001354225.1:c.4955_4957del | NP_001341154.1:p.Gly1652del | |
| NM_001354228.1:c.4844_4846del | NP_001341157.1:p.Gly1615del | |
| NM_001354230.1:c.4922_4924del | NP_001341159.1:p.Gly1641del | |
| NM_001354231.1:c.4985_4987del | NP_001341160.1:p.Gly1662del | |
| NM_001354232.1:c.4979_4981del | NP_001341161.1:p.Gly1660del | |
| NM_001354235.1:c.4940_4942del | NP_001341164.1:p.Gly1647del | |
| NM_001354236.1:c.4841_4843del | NP_001341165.1:p.Gly1614del | |
| NM_001354237.1:c.5021_5023del | NP_001341166.1:p.Gly1674del | |
| NM_001354239.1:c.4913_4915del | NP_001341168.1:p.Gly1638del | |
| NM_001354240.1:c.4988_4990del | NP_001341169.1:p.Gly1663del | |
| NM_001354241.1:c.4988_4990del | NP_001341170.1:p.Gly1663del | |
| NM_001354242.1:c.4985_4987del | NP_001341171.1:p.Gly1662del | |
| NM_001354243.1:c.4880_4882del | NP_001341172.1:p.Gly1627del | |
| NM_001354244.1:c.4877_4879del | NP_001341173.1:p.Gly1626del | |
| NM_001354245.1:c.4781_4783del | NP_001341174.1:p.Gly1594del | |
| NM_001354246.1:c.4940_4942del | NP_001341175.1:p.Gly1647del | |
| NM_001354249.1:c.4757_4759del | NP_001341178.1:p.Gly1586del | |
| NM_001354252.1:c.4913_4915del | NP_001341181.1:p.Gly1638del | |
| NM_001354253.1:c.4718_4720del | NP_001341182.1:p.Gly1573del | |
| NM_001354254.1:c.4892_4894del | NP_001341183.1:p.Gly1631del | |
| NM_001354255.1:c.4880_4882del | NP_001341184.1:p.Gly1627del | |
| NM_001354256.1:c.4877_4879del | NP_001341185.1:p.Gly1626del | |
| NM_001354257.1:c.4682_4684del | NP_001341186.1:p.Gly1561del | |
| NM_001354258.1:c.4844_4846del | NP_001341187.1:p.Gly1615del | |
| NM_001354260.1:c.4658_4660del | NP_001341189.1:p.Gly1553del | |
| NM_001354261.1:c.4802_4804del | NP_001341190.1:p.Gly1601del | |
| NM_001354262.1:c.4781_4783del | NP_001341191.1:p.Gly1594del | |
| NM_001354264.1:c.4778_4780del | NP_001341193.1:p.Gly1593del | |
| NM_001354265.1:c.4940_4942del | NP_001341194.1:p.Gly1647del | |
| NM_001354266.1:c.4757_4759del | NP_001341195.1:p.Gly1586del | |
| NM_001354267.1:c.4757_4759del | NP_001341196.1:p.Gly1586del | |
| NM_001354268.1:c.4745_4747del | NP_001341197.1:p.Gly1582del | |
| NM_001354269.1:c.4730_4732del | NP_001341198.1:p.Gly1577del | |
| NM_001354270.1:c.4718_4720del | NP_001341199.1:p.Gly1573del | |
| NM_001354271.1:c.4658_4660del | NP_001341200.1:p.Gly1553del | |
| NM_001354272.1:c.4814_4816del | NP_001341201.1:p.Gly1605del | |
| NM_001354273.1:c.4643_4645del | NP_001341202.1:p.Gly1548del | |
| NM_001354274.1:c.4709_4711del | NP_001341203.1:p.Gly1570del | |
| NM_001354275.1:c.4781_4783del | NP_001341204.1:p.Gly1594del | |
| NM_001354276.1:c.4757_4759del | NP_001341205.1:p.Gly1586del | |
| NM_001354277.1:c.4559_4561del | NP_001341206.1:p.Gly1520del | |
| NM_001354278.1:c.2471_2473del | NP_001341207.1:p.Gly824del | |
| NM_001354279.1:c.2507_2509del | NP_001341208.1:p.Gly836del | |
| NM_001354280.1:c.2492_2494del | NP_001341209.1:p.Gly831del | |
| NM_001354281.1:c.2471_2473del | NP_001341210.1:p.Gly824del | |
| NM_001354282.1:c.2507_2509del | NP_001341211.1:p.Gly836del | |
| NM_020977.4:c.4943_4945del | NP_066187.2:p.Gly1648del | |
| XM_005262945.3:c.11099_11101del | XP_005263002.1:p.Gly3700del | |
| XM_017008067.1:c.11339_11341del | XP_016863556.1:p.Gly3780del | |
| XM_017008069.1:c.11315_11317del | XP_016863558.1:p.Gly3772del | |
| XM_017008071.2:c.11225_11227del | XP_016863560.1:p.Gly3742del | |
| XM_017008072.2:c.11201_11203del | XP_016863561.1:p.Gly3734del | |
| XM_017008073.2:c.11198_11200del | XP_016863562.1:p.Gly3733del | |
| XM_017008074.2:c.11171_11173del | XP_016863563.1:p.Gly3724del | |
| XM_017008075.2:c.11135_11137del | XP_016863564.1:p.Gly3712del | |
| XM_017008076.2:c.11198_11200del | XP_016863565.1:p.Gly3733del | |
| XM_017008077.2:c.11012_11014del | XP_016863566.1:p.Gly3671del | |
| XM_017008078.2:c.4943_4945del | XP_016863567.1:p.Gly1648del | |
| XM_017008080.2:c.4793_4795del | XP_016863569.1:p.Gly1598del | |
| XM_024454016.1:c.11234_11236del | XP_024309784.1:p.Gly3745del | |
| XM_024454017.1:c.4979_4981del | XP_024309785.1:p.Gly1660del | |
| XM_024454018.1:c.4844_4846del | XP_024309786.1:p.Gly1615del | |
| XM_024454019.1:c.4922_4924del | XP_024309787.1:p.Gly1641del | |
| XM_024454020.1:c.4844_4846del | XP_024309788.1:p.Gly1615del | |
| XM_024454021.1:c.4841_4843del | XP_024309789.1:p.Gly1614del | |
| XM_024454022.1:c.4781_4783del | XP_024309790.1:p.Gly1594del | |
| XM_024454023.1:c.4643_4645del | XP_024309791.1:p.Gly1548del | |
| NM_001148.6:c.11198_11200del MANE Select | NP_001139.3:p.Gly3733del | |
| NM_001127493.3:c.4916_4918del | NP_001120965.1:p.Gly1639del | |
| NM_001354225.2:c.4955_4957del | NP_001341154.1:p.Gly1652del | |
| NM_001354228.2:c.4844_4846del | NP_001341157.1:p.Gly1615del | |
| NM_001354230.2:c.4922_4924del | NP_001341159.1:p.Gly1641del | |
| NM_001354231.2:c.4985_4987del | NP_001341160.1:p.Gly1662del | |
| NM_001354232.2:c.4979_4981del | NP_001341161.1:p.Gly1660del | |
| NM_001354235.2:c.4940_4942del | NP_001341164.1:p.Gly1647del | |
| NM_001354236.2:c.4841_4843del | NP_001341165.1:p.Gly1614del | |
| NM_001354237.2:c.5021_5023del | NP_001341166.1:p.Gly1674del | |
| NM_001354239.2:c.4913_4915del | NP_001341168.1:p.Gly1638del | |
| NM_001354240.2:c.4988_4990del | NP_001341169.1:p.Gly1663del | |
| NM_001354241.2:c.4988_4990del | NP_001341170.1:p.Gly1663del | |
| NM_001354242.2:c.4985_4987del | NP_001341171.1:p.Gly1662del | |
| NM_001354243.2:c.4880_4882del | NP_001341172.1:p.Gly1627del | |
| NM_001354244.2:c.4877_4879del | NP_001341173.1:p.Gly1626del | |
| NM_001354245.2:c.4781_4783del | NP_001341174.1:p.Gly1594del | |
| NM_001354246.2:c.4940_4942del | NP_001341175.1:p.Gly1647del | |
| NM_001354249.2:c.4757_4759del | NP_001341178.1:p.Gly1586del | |
| NM_001354252.2:c.4913_4915del | NP_001341181.1:p.Gly1638del | |
| NM_001354253.2:c.4718_4720del | NP_001341182.1:p.Gly1573del | |
| NM_001354254.2:c.4892_4894del | NP_001341183.1:p.Gly1631del | |
| NM_001354255.2:c.4880_4882del | NP_001341184.1:p.Gly1627del | |
| NM_001354256.2:c.4877_4879del | NP_001341185.1:p.Gly1626del | |
| NM_001354257.2:c.4682_4684del | NP_001341186.1:p.Gly1561del | |
| NM_001354258.2:c.4844_4846del | NP_001341187.1:p.Gly1615del | |
| NM_001354260.2:c.4658_4660del | NP_001341189.1:p.Gly1553del | |
| NM_001354261.2:c.4802_4804del | NP_001341190.1:p.Gly1601del | |
| NM_001354262.2:c.4781_4783del | NP_001341191.1:p.Gly1594del | |
| NM_001354264.2:c.4778_4780del | NP_001341193.1:p.Gly1593del | |
| NM_001354265.2:c.4940_4942del | NP_001341194.1:p.Gly1647del | |
| NM_001354266.2:c.4757_4759del | NP_001341195.1:p.Gly1586del | |
| NM_001354267.2:c.4757_4759del | NP_001341196.1:p.Gly1586del | |
| NM_001354268.2:c.4745_4747del | NP_001341197.1:p.Gly1582del | |
| NM_001354269.3:c.4730_4732del | NP_001341198.1:p.Gly1577del | |
| NM_001354270.2:c.4718_4720del | NP_001341199.1:p.Gly1573del | |
| NM_001354271.2:c.4658_4660del | NP_001341200.1:p.Gly1553del | |
| NM_001354272.2:c.4814_4816del | NP_001341201.1:p.Gly1605del | |
| NM_001354273.2:c.4643_4645del | NP_001341202.1:p.Gly1548del | |
| NM_001354274.2:c.4709_4711del | NP_001341203.1:p.Gly1570del | |
| NM_001354275.2:c.4781_4783del | NP_001341204.1:p.Gly1594del | |
| NM_001354276.2:c.4757_4759del | NP_001341205.1:p.Gly1586del | |
| NM_001354277.2:c.4559_4561del | NP_001341206.1:p.Gly1520del | |
| NM_001354278.2:c.2471_2473del | NP_001341207.1:p.Gly824del | |
| NM_001354279.2:c.2507_2509del | NP_001341208.1:p.Gly836del | |
| NM_001354280.2:c.2492_2494del | NP_001341209.1:p.Gly831del | |
| NM_001354281.2:c.2471_2473del | NP_001341210.1:p.Gly824del | |
| NM_001354282.2:c.2507_2509del | NP_001341211.1:p.Gly836del | |
| NM_001386142.1:c.10964_10966del | NP_001373071.1:p.Gly3655del | |
| NM_001386143.1:c.4880_4882del | NP_001373072.1:p.Gly1627del | |
| NM_001386144.1:c.4988_4990del | NP_001373073.1:p.Gly1663del | |
| NM_001386146.1:c.4724_4726del | NP_001373075.1:p.Gly1575del | |
| NM_001386147.1:c.4769_4771del | NP_001373076.1:p.Gly1590del | |
| NM_001386148.2:c.4928_4930del | NP_001373077.1:p.Gly1643del | |
| NM_001386149.1:c.4724_4726del | NP_001373078.1:p.Gly1575del | |
| NM_001386150.1:c.4724_4726del | NP_001373079.1:p.Gly1575del | |
| NM_001386151.1:c.4658_4660del | NP_001373080.1:p.Gly1553del | |
| NM_001386152.1:c.5000_5002del | NP_001373081.1:p.Gly1667del | |
| NM_001386153.1:c.4724_4726del | NP_001373082.1:p.Gly1575del | |
| NM_001386154.1:c.4709_4711del | NP_001373083.1:p.Gly1570del | |
| NM_001386156.1:c.4682_4684del | NP_001373085.1:p.Gly1561del | |
| NM_001386157.1:c.4559_4561del | NP_001373086.1:p.Gly1520del | |
| NM_001386158.1:c.4460_4462del | NP_001373087.1:p.Gly1487del | |
| NM_001386160.1:c.4787_4789del | NP_001373089.1:p.Gly1596del | |
| NM_001386161.1:c.4877_4879del | NP_001373090.1:p.Gly1626del | |
| NM_001386162.1:c.4757_4759del | NP_001373091.1:p.Gly1586del | |
| NM_001386166.1:c.7598_7600del | NP_001373095.1:p.Gly2533del | |
| NM_001386167.1:c.1343_1345del | NP_001373096.1:p.Gly448del | |
| NM_001386174.1:c.11339_11341del | NP_001373103.1:p.Gly3780del | |
| NM_001386175.1:c.11315_11317del | NP_001373104.1:p.Gly3772del | |
| NM_001386186.2:c.4928_4930del | NP_001373115.1:p.Gly1643del | |
| NM_001386187.2:c.4808_4810del | NP_001373116.1:p.Gly1603del | |
| NM_020977.5:c.4943_4945del | NP_066187.2:p.Gly1648del |