Canonical Allele Identifier: CA2580616301
Gene: LRSAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2117822
ClinVar RCV Id: RCV003039390

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127501021_127501023del , CM000671.2:g.127501021_127501023del GRCh38
NC_000009.11:g.130263300_130263302del , CM000671.1:g.130263300_130263302del GRCh37
NC_000009.10:g.129303121_129303123del NCBI36
NG_032008.1:g.54536_54538del , LRG_373:g.54536_54538del

Transcript Alleles

HGVS Amino-acid Change
ENST00000300417.11:c.1924_1926del MANE Select ENSP00000300417.6:p.Pro642del
ENST00000472068.2:c.*1648_*1650del ENSP00000501555.1:n.*1648_*1650del
ENST00000483302.6:n.2589_2591del
ENST00000498513.6:c.*815_*817del ENSP00000501637.1:n.*815_*817del
ENST00000674511.1:n.1523_1525del
ENST00000674516.1:c.*540_*542del ENSP00000502441.1:n.*540_*542del
ENST00000674621.1:n.1861-2352_1861-2350del
ENST00000674771.1:c.*567_*569del ENSP00000502627.1:n.*567_*569del
ENST00000674784.1:c.*984_*986del ENSP00000501837.1:n.*984_*986del
ENST00000674970.1:c.*1698_*1700del ENSP00000502493.1:n.*1698_*1700del
ENST00000675012.1:n.1868_1870del
ENST00000675141.1:c.1825_1827del ENSP00000502420.1:p.Pro609del
ENST00000675198.1:n.1804_1806del
ENST00000675213.1:c.1879_1881del ENSP00000502218.1:p.Pro627del
ENST00000675224.1:c.1952_1954del ENSP00000501869.1:p.Thr651del
ENST00000675253.1:c.*596_*598del ENSP00000502557.1:n.*596_*598del
ENST00000675445.1:c.*1596_*1598del ENSP00000502253.1:n.*1596_*1598del
ENST00000675448.1:c.1924_1926del ENSP00000502167.1:p.Pro642del
ENST00000675521.1:n.1834_1836del
ENST00000675572.1:c.1825_1827del ENSP00000501598.1:p.Pro609del
ENST00000675641.1:c.*666_*668del ENSP00000501845.1:n.*666_*668del
ENST00000675657.1:c.*537_*539del ENSP00000502002.1:n.*537_*539del
ENST00000675662.1:n.1719_1721del
ENST00000675789.1:c.1744_1746del ENSP00000501954.1:p.Pro582del
ENST00000675883.1:c.1843_1845del ENSP00000501592.1:p.Pro615del
ENST00000675945.1:c.*565_*567del ENSP00000501835.1:n.*565_*567del
ENST00000676014.1:c.1867_1869del ENSP00000502058.1:p.Pro623del
ENST00000676035.1:n.1586_1588del
ENST00000676106.1:n.1961_1963del
ENST00000676137.1:n.1954_1956del
ENST00000676170.1:c.2005_2007del ENSP00000502177.1:p.Pro669del
ENST00000676318.1:c.*2754_*2756del ENSP00000502300.1:n.*2754_*2756del
ENST00000676336.1:c.*537_*539del ENSP00000502686.1:n.*537_*539del
ENST00000676349.1:c.*1612_*1614del ENSP00000502155.1:n.*1612_*1614del
ENST00000676399.1:n.1827_1829del
ENST00000676409.1:n.1984_1986del
ENST00000300417.10:c.1924_1926del ENSP00000300417.6:p.Pro642del
ENST00000323301.8:c.1924_1926del ENSP00000322937.4:p.Pro642del
ENST00000373322.1:c.1924_1926del ENSP00000362419.1:p.Pro642del
ENST00000373324.8:c.1843_1845del ENSP00000362421.4:p.Pro615del
ENST00000472068.1:n.817_819del
ENST00000483302.5:n.1146_1148del
NM_001005373.3:c.1924_1926del NP_001005373.1:p.Pro642del
NM_001005374.3:c.1924_1926del NP_001005374.1:p.Pro642del
NM_001190723.2:c.1843_1845del NP_001177652.1:p.Pro615del
NM_138361.5:c.1924_1926del , LRG_373t1:c.1924_1926del NP_612370.3:p.Pro642del
XM_006717316.2:c.1825_1827del XP_006717379.1:p.Pro609del
XM_006717316.4:c.1825_1827del XP_006717379.1:p.Pro609del
XM_017015283.1:c.1924_1926del XP_016870772.1:p.Pro642del
XM_017015284.2:c.1135_1137del XP_016870773.1:p.Pro379del
XR_001746415.2:n.2459_2461del
XR_929874.3:n.2283_2285del
NM_001190723.3:c.1843_1845del NP_001177652.1:p.Pro615del
NM_001005373.4:c.1924_1926del MANE Select NP_001005373.1:p.Pro642del
NM_001005374.4:c.1924_1926del NP_001005374.1:p.Pro642del
NM_001384142.1:c.1924_1926del NP_001371071.1:p.Pro642del
NM_001384143.1:c.1825_1827del NP_001371072.1:p.Pro609del
NM_001384144.1:c.1135_1137del NP_001371073.1:p.Pro379del
NR_168891.1:n.2453_2455del
NR_168892.1:n.2277_2279del