Canonical Allele Identifier: CA1624454
Community Standard Title: NM_005633.4(SOS1):c.2167+16dup
Gene: SOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39013454dup , CM000664.2:g.39013454dup GRCh38
NC_000002.11:g.39240595dup , CM000664.1:g.39240595dup GRCh37
NC_000002.10:g.39094099dup NCBI36
NG_007530.1:g.112020dup , LRG_754:g.112020dup

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.2167+16dup MANE Select NP_005624.2:n.2167+16dup
ENST00000402219.8:c.2167+16dup MANE Select ENSP00000384675.2:n.2167+16dup
NM_001382394.1:c.2146+16dup NP_001369323.1:n.2146+16dup
NM_001382395.1:c.2167+16dup NP_001369324.1:n.2167+16dup
NM_005633.3:c.2167+16dup , LRG_754t1:c.2167+16dup NP_005624.2:n.2167+16dup
ENST00000395038.6:c.2167+16dup ENSP00000378479.2:n.2167+16dup
ENST00000402219.6:c.2167+16dup ENSP00000384675.2:n.2167+16dup
ENST00000426016.5:c.2167+16dup ENSP00000387784.1:n.2167+16dup
ENST00000685279.1:c.934+16dup ENSP00000509424.1:n.934+16dup
ENST00000688043.1:n.2404dup
ENST00000689668.1:n.2174+16dup
ENST00000690514.1:n.256+16dup
ENST00000690876.1:c.2056+16dup ENSP00000508955.1:n.2056+16dup
ENST00000691229.1:c.2056+16dup ENSP00000510437.1:n.2056+16dup
ENST00000692089.1:c.2056+16dup ENSP00000508626.1:n.2056+16dup
ENST00000692620.1:c.934+16dup ENSP00000509311.1:n.934+16dup
XM_005264515.3:c.2167+16dup XP_005264572.1:n.2167+16dup
XM_005264515.4:c.2167+16dup XP_005264572.1:n.2167+16dup
XM_011533060.1:c.2260+16dup XP_011531362.1:n.2260+16dup
XM_011533061.1:c.2260+16dup XP_011531363.1:n.2260+16dup
XM_011533062.1:c.2146+16dup XP_011531364.1:n.2146+16dup
XM_011533062.2:c.2146+16dup XP_011531364.1:n.2146+16dup
XM_011533063.1:c.2143+16dup XP_011531365.1:n.2143+16dup
XM_011533064.1:c.1996+16dup XP_011531366.1:n.1996+16dup
XM_011533064.2:c.1996+16dup XP_011531366.1:n.1996+16dup
XM_011533065.1:c.2260+16dup XP_011531367.1:n.2260+16dup
XM_011533066.1:c.1102+16dup XP_011531368.1:n.1102+16dup