Canonical Allele Identifier: CA1139656876
Community Standard Title: NM_005633.4(SOS1):c.511-6_511-5del
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39054829_39054830del , CM000664.2:g.39054829_39054830del GRCh38
NC_000002.11:g.39281970_39281971del , CM000664.1:g.39281970_39281971del GRCh37
NC_000002.10:g.39135474_39135475del NCBI36
NG_007530.1:g.70635_70636del , LRG_754:g.70635_70636del

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.511-6_511-5del MANE Select NP_005624.2:n.511-6_511-5del
ENST00000402219.8:c.511-6_511-5del MANE Select ENSP00000384675.2:n.511-6_511-5del
NM_001382394.1:c.490-6_490-5del NP_001369323.1:n.490-6_490-5del
NM_001382395.1:c.511-6_511-5del NP_001369324.1:n.511-6_511-5del
NM_005633.3:c.511-6_511-5del , LRG_754t1:c.511-6_511-5del NP_005624.2:n.511-6_511-5del
ENST00000395038.6:c.511-6_511-5del ENSP00000378479.2:n.511-6_511-5del
ENST00000402219.6:c.511-6_511-5del ENSP00000384675.2:n.511-6_511-5del
ENST00000426016.5:c.511-6_511-5del ENSP00000387784.1:n.511-6_511-5del
ENST00000461545.2:n.538-6_538-5del
ENST00000685782.1:n.1349-6_1349-5del
ENST00000688189.1:n.276-6_276-5del
ENST00000689668.1:n.518-6_518-5del
ENST00000690679.1:c.611-6_611-5del
ENST00000690876.1:c.511-6_511-5del ENSP00000508955.1:n.511-6_511-5del
ENST00000691229.1:c.511-6_511-5del ENSP00000510437.1:n.511-6_511-5del
ENST00000692089.1:c.511-6_511-5del ENSP00000508626.1:n.511-6_511-5del
XM_005264515.3:c.511-6_511-5del XP_005264572.1:n.511-6_511-5del
XM_005264515.4:c.511-6_511-5del XP_005264572.1:n.511-6_511-5del
XM_011533060.1:c.604-6_604-5del XP_011531362.1:n.604-6_604-5del
XM_011533061.1:c.604-6_604-5del XP_011531363.1:n.604-6_604-5del
XM_011533062.1:c.490-6_490-5del XP_011531364.1:n.490-6_490-5del
XM_011533062.2:c.490-6_490-5del XP_011531364.1:n.490-6_490-5del
XM_011533063.1:c.487-6_487-5del XP_011531365.1:n.487-6_487-5del
XM_011533064.1:c.340-6_340-5del XP_011531366.1:n.340-6_340-5del
XM_011533064.2:c.340-6_340-5del XP_011531366.1:n.340-6_340-5del
XM_011533065.1:c.604-6_604-5del XP_011531367.1:n.604-6_604-5del