Canonical Allele Identifier: CA10577373
Gene: LRSAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 234769
dbSNP Id: rs876661208

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127501100_127501112del , CM000671.2:g.127501100_127501112del GRCh38
NC_000009.11:g.130263379_130263391del , CM000671.1:g.130263379_130263391del GRCh37
NC_000009.10:g.129303200_129303212del NCBI36
NG_032008.1:g.54615_54627del , LRG_373:g.54615_54627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000300417.11:c.2003_2015del MANE Select ENSP00000300417.6:p.Leu668ProfsTer14
ENST00000472068.2:c.*1727_*1739del ENSP00000501555.1:n.*1727_*1739del
ENST00000483302.6:n.2668_2680del
ENST00000498513.6:c.*894_*906del ENSP00000501637.1:n.*894_*906del
ENST00000674511.1:n.1602_1614del
ENST00000674516.1:c.*619_*631del ENSP00000502441.1:n.*619_*631del
ENST00000674621.1:n.1861-2273_1861-2261del
ENST00000674771.1:c.*646_*658del ENSP00000502627.1:n.*646_*658del
ENST00000674784.1:c.*1063_*1075del ENSP00000501837.1:n.*1063_*1075del
ENST00000674970.1:c.*1777_*1789del ENSP00000502493.1:n.*1777_*1789del
ENST00000675012.1:n.1947_1959del
ENST00000675141.1:c.1904_1916del ENSP00000502420.1:p.Leu635ProfsTer14
ENST00000675198.1:n.1883_1895del
ENST00000675213.1:c.1958_1970del ENSP00000502218.1:p.Leu653ProfsTer14
ENST00000675224.1:c.*69_*81del ENSP00000501869.1:n.*69_*81del
ENST00000675253.1:c.*675_*687del ENSP00000502557.1:n.*675_*687del
ENST00000675445.1:c.*1675_*1687del ENSP00000502253.1:n.*1675_*1687del
ENST00000675448.1:c.2003_2015del ENSP00000502167.1:p.Leu668ProfsTer14
ENST00000675521.1:n.1913_1925del
ENST00000675572.1:c.1904_1916del ENSP00000501598.1:p.Leu635ProfsTer14
ENST00000675641.1:c.*745_*757del ENSP00000501845.1:n.*745_*757del
ENST00000675657.1:c.*616_*628del ENSP00000502002.1:n.*616_*628del
ENST00000675662.1:n.1798_1810del
ENST00000675789.1:c.1823_1835del ENSP00000501954.1:p.Leu608ProfsTer14
ENST00000675883.1:c.1922_1934del ENSP00000501592.1:p.Leu641ProfsTer14
ENST00000675945.1:c.*644_*656del ENSP00000501835.1:n.*644_*656del
ENST00000676014.1:c.1946_1958del ENSP00000502058.1:p.Leu649ProfsTer14
ENST00000676035.1:n.1665_1677del
ENST00000676106.1:n.2040_2052del
ENST00000676137.1:n.2033_2045del
ENST00000676170.1:c.2084_2096del ENSP00000502177.1:p.Leu695ProfsTer14
ENST00000676318.1:c.*2833_*2845del ENSP00000502300.1:n.*2833_*2845del
ENST00000676336.1:c.*616_*628del ENSP00000502686.1:n.*616_*628del
ENST00000676349.1:c.*1691_*1703del ENSP00000502155.1:n.*1691_*1703del
ENST00000676399.1:n.1906_1918del
ENST00000676409.1:n.2063_2075del
ENST00000300417.10:c.2003_2015del ENSP00000300417.6:p.Leu668ProfsTer14
ENST00000323301.8:c.2003_2015del ENSP00000322937.4:p.Leu668ProfsTer14
ENST00000373322.1:c.2003_2015del ENSP00000362419.1:p.Leu668ProfsTer14
ENST00000373324.8:c.1922_1934del ENSP00000362421.4:p.Leu641ProfsTer14
ENST00000483302.5:n.1225_1237del
NM_001005373.3:c.2003_2015del NP_001005373.1:p.Leu668ProfsTer14
NM_001005374.3:c.2003_2015del NP_001005374.1:p.Leu668ProfsTer14
NM_001190723.2:c.1922_1934del NP_001177652.1:p.Leu641ProfsTer14
NM_138361.5:c.2003_2015del , LRG_373t1:c.2003_2015del NP_612370.3:p.Leu668ProfsTer14
XM_006717316.2:c.1904_1916del XP_006717379.1:p.Leu635ProfsTer14
XM_006717316.4:c.1904_1916del XP_006717379.1:p.Leu635ProfsTer14
XM_017015283.1:c.2003_2015del XP_016870772.1:p.Leu668ProfsTer14
XM_017015284.2:c.1214_1226del XP_016870773.1:p.Leu405ProfsTer14
XR_001746415.2:n.2538_2550del
XR_929874.3:n.2362_2374del
NM_001190723.3:c.1922_1934del NP_001177652.1:p.Leu641ProfsTer14
NM_001005373.4:c.2003_2015del MANE Select NP_001005373.1:p.Leu668ProfsTer14
NM_001005374.4:c.2003_2015del NP_001005374.1:p.Leu668ProfsTer14
NM_001384142.1:c.2003_2015del NP_001371071.1:p.Leu668ProfsTer14
NM_001384143.1:c.1904_1916del NP_001371072.1:p.Leu635ProfsTer14
NM_001384144.1:c.1214_1226del NP_001371073.1:p.Leu405ProfsTer14
NR_168891.1:n.2532_2544del
NR_168892.1:n.2356_2368del