This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA2658716557
Community Standard Title: NM_005633.4(SOS1):c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT
Gene: SOS1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39054557_39054558insTGTACAGTTCATCATTACTAATTTGAAGT , CM000664.2:g.39054557_39054558insTGTACAGTTCATCATTACTAATTTGAAGT GRCh38
NC_000002.11:g.39281698_39281699insTGTACAGTTCATCATTACTAATTTGAAGT , CM000664.1:g.39281698_39281699insTGTACAGTTCATCATTACTAATTTGAAGT GRCh37
NC_000002.10:g.39135202_39135203insTGTACAGTTCATCATTACTAATTTGAAGT NCBI36
NG_007530.1:g.70916_70917insAGTAATGATGAACTGTACAACTTCAAATT , LRG_754:g.70916_70917insAGTAATGATGAACTGTACAACTTCAAATT

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT MANE Select NP_005624.2:n.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT
ENST00000402219.8:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT MANE Select ENSP00000384675.2:n.720+66_720+67insAGTAATGATGAACTGTACAACTTCA...
NM_001382394.1:c.699+66_699+67insAGTAATGATGAACTGTACAACTTCAAATT NP_001369323.1:n.699+66_699+67insAGTAATGATGAACTGTACAACTTCAAAT...
NM_001382395.1:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT NP_001369324.1:n.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAAT...
NM_005633.3:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT , LRG_754t1:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT NP_005624.2:n.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT
ENST00000395038.6:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT ENSP00000378479.2:n.720+66_720+67insAGTAATGATGAACTGTACAACTTCA...
ENST00000402219.6:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT ENSP00000384675.2:n.720+66_720+67insAGTAATGATGAACTGTACAACTTCA...
ENST00000426016.5:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT ENSP00000387784.1:n.720+66_720+67insAGTAATGATGAACTGTACAACTTCA...
ENST00000461545.2:n.747+66_747+67insAGTAATGATGAACTGTACAACTTCAAATT
ENST00000685782.1:n.1558+66_1558+67insAGTAATGATGAACTGTACAACTTCAAATT
ENST00000688189.1:n.551_552insAGTAATGATGAACTGTACAACTTCAAATT
ENST00000689668.1:n.727+66_727+67insAGTAATGATGAACTGTACAACTTCAAATT
ENST00000690679.1:c.820+66_820+67insAGTAATGATGAACTGTACAACTTCAAATT
ENST00000690876.1:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT ENSP00000508955.1:n.720+66_720+67insAGTAATGATGAACTGTACAACTTCA...
ENST00000691229.1:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT ENSP00000510437.1:n.720+66_720+67insAGTAATGATGAACTGTACAACTTCA...
ENST00000692089.1:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT ENSP00000508626.1:n.720+66_720+67insAGTAATGATGAACTGTACAACTTCA...
XM_005264515.3:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT XP_005264572.1:n.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAAT...
XM_005264515.4:c.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAATT XP_005264572.1:n.720+66_720+67insAGTAATGATGAACTGTACAACTTCAAAT...
XM_011533060.1:c.813+66_813+67insAGTAATGATGAACTGTACAACTTCAAATT XP_011531362.1:n.813+66_813+67insAGTAATGATGAACTGTACAACTTCAAAT...
XM_011533061.1:c.813+66_813+67insAGTAATGATGAACTGTACAACTTCAAATT XP_011531363.1:n.813+66_813+67insAGTAATGATGAACTGTACAACTTCAAAT...
XM_011533062.1:c.699+66_699+67insAGTAATGATGAACTGTACAACTTCAAATT XP_011531364.1:n.699+66_699+67insAGTAATGATGAACTGTACAACTTCAAAT...
XM_011533062.2:c.699+66_699+67insAGTAATGATGAACTGTACAACTTCAAATT XP_011531364.1:n.699+66_699+67insAGTAATGATGAACTGTACAACTTCAAAT...
XM_011533063.1:c.696+66_696+67insAGTAATGATGAACTGTACAACTTCAAATT XP_011531365.1:n.696+66_696+67insAGTAATGATGAACTGTACAACTTCAAAT...
XM_011533064.1:c.549+66_549+67insAGTAATGATGAACTGTACAACTTCAAATT XP_011531366.1:n.549+66_549+67insAGTAATGATGAACTGTACAACTTCAAAT...
XM_011533064.2:c.549+66_549+67insAGTAATGATGAACTGTACAACTTCAAATT XP_011531366.1:n.549+66_549+67insAGTAATGATGAACTGTACAACTTCAAAT...
XM_011533065.1:c.813+66_813+67insAGTAATGATGAACTGTACAACTTCAAATT XP_011531367.1:n.813+66_813+67insAGTAATGATGAACTGTACAACTTCAAAT...
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