Canonical Allele Identifier: CA1624622

Gene: SOS1

Linked Data

• dbSNP Id: rs756081651
• ExAC: 2:39250410 A / AACCTAGAGCTCATGTAAGT
• gnomAD v2: 2-39250410-A-AACCTAGAGCTCATGTAAGT
• gnomAD v4: 2-39023269-A-AACCTAGAGCTCATGTAAGT
• MyVariant Identifiers: chr2:g.39250410_39250411insACCTAGAGCTCATGTAAGT (hg19) ; chr2:g.39023269_39023270insACCTAGAGCTCATGTAAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023271_39023289dup , CM000664.2:g.39023271_39023289dup	GRCh38
NC_000002.11:g.39250412_39250430dup , CM000664.1:g.39250412_39250430dup	GRCh37
NC_000002.10:g.39103916_39103934dup	NCBI36
NG_007530.1:g.102176_102194dup , LRG_754:g.102176_102194dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1083-63_1083-45dup
ENST00000685279.1:c.-31-63_-31-45dup	ENSP00000509424.1:n.-31-63_-31-45dup
ENST00000688043.1:n.1424-63_1424-45dup
ENST00000689668.1:n.1210-63_1210-45dup
ENST00000690679.1:c.1390-63_1390-45dup
ENST00000690876.1:c.1092-63_1092-45dup	ENSP00000508955.1:n.1092-63_1092-45dup
ENST00000691229.1:c.1092-63_1092-45dup	ENSP00000510437.1:n.1092-63_1092-45dup
ENST00000692089.1:c.1092-63_1092-45dup	ENSP00000508626.1:n.1092-63_1092-45dup
ENST00000692620.1:c.-31-63_-31-45dup	ENSP00000509311.1:n.-31-63_-31-45dup
ENST00000402219.8:c.1203-63_1203-45dup MANE Select	ENSP00000384675.2:n.1203-63_1203-45dup
ENST00000395038.6:c.1203-63_1203-45dup	ENSP00000378479.2:n.1203-63_1203-45dup
ENST00000402219.6:c.1203-63_1203-45dup	ENSP00000384675.2:n.1203-63_1203-45dup
ENST00000426016.5:c.1203-63_1203-45dup	ENSP00000387784.1:n.1203-63_1203-45dup
ENST00000472480.1:n.47-63_47-45dup
NM_005633.3:c.1203-63_1203-45dup , LRG_754t1:c.1203-63_1203-45dup	NP_005624.2:n.1203-63_1203-45dup
XM_005264515.3:c.1203-63_1203-45dup	XP_005264572.1:n.1203-63_1203-45dup
XM_011533060.1:c.1296-63_1296-45dup	XP_011531362.1:n.1296-63_1296-45dup
XM_011533061.1:c.1296-63_1296-45dup	XP_011531363.1:n.1296-63_1296-45dup
XM_011533062.1:c.1182-63_1182-45dup	XP_011531364.1:n.1182-63_1182-45dup
XM_011533063.1:c.1179-63_1179-45dup	XP_011531365.1:n.1179-63_1179-45dup
XM_011533064.1:c.1032-63_1032-45dup	XP_011531366.1:n.1032-63_1032-45dup
XM_011533065.1:c.1296-63_1296-45dup	XP_011531367.1:n.1296-63_1296-45dup
XM_011533066.1:c.138-63_138-45dup	XP_011531368.1:n.138-63_138-45dup
XM_005264515.4:c.1203-63_1203-45dup	XP_005264572.1:n.1203-63_1203-45dup
XM_011533062.2:c.1182-63_1182-45dup	XP_011531364.1:n.1182-63_1182-45dup
XM_011533064.2:c.1032-63_1032-45dup	XP_011531366.1:n.1032-63_1032-45dup
NM_001382394.1:c.1182-63_1182-45dup	NP_001369323.1:n.1182-63_1182-45dup
NM_001382395.1:c.1203-63_1203-45dup	NP_001369324.1:n.1203-63_1203-45dup
NM_005633.4:c.1203-63_1203-45dup MANE Select	NP_005624.2:n.1203-63_1203-45dup