Canonical Allele Identifier: CA2573050881

Gene: SOS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023034del , CM000664.2:g.39023034del	GRCh38
NC_000002.11:g.39250175del , CM000664.1:g.39250175del	GRCh37
NC_000002.10:g.39103679del	NCBI36
NG_007530.1:g.102430del , LRG_754:g.102430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1274del
ENST00000685279.1:c.161del	ENSP00000509424.1:p.Asp54ValfsTer3
ENST00000688043.1:n.1615del
ENST00000689668.1:n.1401del
ENST00000690876.1:c.1283del	ENSP00000508955.1:p.Asp428ValfsTer3
ENST00000691229.1:c.1283del	ENSP00000510437.1:p.Asp428ValfsTer3
ENST00000692089.1:c.1283del	ENSP00000508626.1:p.Asp428ValfsTer3
ENST00000692620.1:c.161del	ENSP00000509311.1:p.Asp54ValfsTer3
ENST00000402219.8:c.1394del MANE Select	ENSP00000384675.2:p.Asp465ValfsTer3
ENST00000395038.6:c.1394del	ENSP00000378479.2:p.Asp465ValfsTer3
ENST00000402219.6:c.1394del	ENSP00000384675.2:p.Asp465ValfsTer3
ENST00000426016.5:c.1394del	ENSP00000387784.1:p.Asp465ValfsTer3
ENST00000472480.1:n.238del
NM_005633.3:c.1394del , LRG_754t1:c.1394del	NP_005624.2:p.Asp465ValfsTer3
XM_005264515.3:c.1394del	XP_005264572.1:p.Asp465ValfsTer3
XM_011533060.1:c.1487del	XP_011531362.1:p.Asp496ValfsTer3
XM_011533061.1:c.1487del	XP_011531363.1:p.Asp496ValfsTer3
XM_011533062.1:c.1373del	XP_011531364.1:p.Asp458ValfsTer3
XM_011533063.1:c.1370del	XP_011531365.1:p.Asp457ValfsTer3
XM_011533064.1:c.1223del	XP_011531366.1:p.Asp408ValfsTer3
XM_011533065.1:c.1487del	XP_011531367.1:p.Asp496ValfsTer3
XM_011533066.1:c.329del	XP_011531368.1:p.Asp110ValfsTer3
XM_005264515.4:c.1394del	XP_005264572.1:p.Asp465ValfsTer3
XM_011533062.2:c.1373del	XP_011531364.1:p.Asp458ValfsTer3
XM_011533064.2:c.1223del	XP_011531366.1:p.Asp408ValfsTer3
NM_001382394.1:c.1373del	NP_001369323.1:p.Asp458ValfsTer3
NM_001382395.1:c.1394del	NP_001369324.1:p.Asp465ValfsTer3
NM_005633.4:c.1394del MANE Select	NP_005624.2:p.Asp465ValfsTer3