Canonical Allele Identifier: CA532237869

Gene: SOS1

Linked Data

• dbSNP Id: rs1558474079
• gnomAD v2: 2-39249647-T-TGCAGGAAAGAAAATCAGTTTGAA
• gnomAD v4: 2-39022506-T-TGCAGGAAAGAAAATCAGTTTGAA
• MyVariant Identifiers: chr2:g.39249647_39249648insGCAGGAAAGAAAATCAGTTTGAA (hg19) ; chr2:g.39022506_39022507insGCAGGAAAGAAAATCAGTTTGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022515_39022537dup , CM000664.2:g.39022515_39022537dup	GRCh38
NC_000002.11:g.39249656_39249678dup , CM000664.1:g.39249656_39249678dup	GRCh37
NC_000002.10:g.39103160_39103182dup	NCBI36
NG_007530.1:g.102935_102957dup , LRG_754:g.102935_102957dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1779_1801dup
ENST00000685279.1:c.625+41_625+63dup	ENSP00000509424.1:n.625+41_625+63dup
ENST00000688043.1:n.2079+41_2079+63dup
ENST00000689668.1:n.1865+41_1865+63dup
ENST00000690876.1:c.1747+41_1747+63dup	ENSP00000508955.1:n.1747+41_1747+63dup
ENST00000691229.1:c.1747+41_1747+63dup	ENSP00000510437.1:n.1747+41_1747+63dup
ENST00000692089.1:c.1747+41_1747+63dup	ENSP00000508626.1:n.1747+41_1747+63dup
ENST00000692620.1:c.625+41_625+63dup	ENSP00000509311.1:n.625+41_625+63dup
ENST00000402219.8:c.1858+41_1858+63dup MANE Select	ENSP00000384675.2:n.1858+41_1858+63dup
ENST00000395038.6:c.1858+41_1858+63dup	ENSP00000378479.2:n.1858+41_1858+63dup
ENST00000402219.6:c.1858+41_1858+63dup	ENSP00000384675.2:n.1858+41_1858+63dup
ENST00000426016.5:c.1858+41_1858+63dup	ENSP00000387784.1:n.1858+41_1858+63dup
NM_005633.3:c.1858+41_1858+63dup , LRG_754t1:c.1858+41_1858+63dup	NP_005624.2:n.1858+41_1858+63dup
XM_005264515.3:c.1858+41_1858+63dup	XP_005264572.1:n.1858+41_1858+63dup
XM_011533060.1:c.1951+41_1951+63dup	XP_011531362.1:n.1951+41_1951+63dup
XM_011533061.1:c.1951+41_1951+63dup	XP_011531363.1:n.1951+41_1951+63dup
XM_011533062.1:c.1837+41_1837+63dup	XP_011531364.1:n.1837+41_1837+63dup
XM_011533063.1:c.1834+41_1834+63dup	XP_011531365.1:n.1834+41_1834+63dup
XM_011533064.1:c.1687+41_1687+63dup	XP_011531366.1:n.1687+41_1687+63dup
XM_011533065.1:c.1951+41_1951+63dup	XP_011531367.1:n.1951+41_1951+63dup
XM_011533066.1:c.793+41_793+63dup	XP_011531368.1:n.793+41_793+63dup
XM_005264515.4:c.1858+41_1858+63dup	XP_005264572.1:n.1858+41_1858+63dup
XM_011533062.2:c.1837+41_1837+63dup	XP_011531364.1:n.1837+41_1837+63dup
XM_011533064.2:c.1687+41_1687+63dup	XP_011531366.1:n.1687+41_1687+63dup
NM_001382394.1:c.1837+41_1837+63dup	NP_001369323.1:n.1837+41_1837+63dup
NM_001382395.1:c.1858+41_1858+63dup	NP_001369324.1:n.1858+41_1858+63dup
NM_005633.4:c.1858+41_1858+63dup MANE Select	NP_005624.2:n.1858+41_1858+63dup