Canonical Allele Identifier: CA16042477

Gene: SOS1

Linked Data

• ClinVar Variation Id: 372840
• ClinVar RCV Id: RCV000414163
• dbSNP Id: rs1057518017
• MyVariant Identifiers: chr2:g.39222341dupG (hg19) ; chr2:g.39222340_39222341insG (hg19) ; chr2:g.38995200dupG (hg38) ; chr2:g.38995199_38995200insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38995201dup , CM000664.2:g.38995201dup	GRCh38
NC_000002.11:g.39222342dup , CM000664.1:g.39222342dup	GRCh37
NC_000002.10:g.39075846dup	NCBI36
NG_007530.1:g.130264dup , LRG_754:g.130264dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2036dup	ENSP00000509424.1:p.Pro680AlafsTer16
ENST00000690876.1:c.*575dup	ENSP00000508955.1:n.*575dup
ENST00000691229.1:c.3038dup	ENSP00000510437.1:p.Pro1014AlafsTer16
ENST00000692089.1:c.3158dup	ENSP00000508626.1:p.Pro1054AlafsTer16
ENST00000692227.1:c.965dup	ENSP00000509138.1:p.Pro323AlafsTer16
ENST00000692620.1:c.*856dup	ENSP00000509311.1:n.*856dup
ENST00000402219.8:c.3269dup MANE Select	ENSP00000384675.2:p.Pro1091AlafsTer16
ENST00000395038.6:c.3269dup	ENSP00000378479.2:p.Pro1091AlafsTer16
ENST00000402219.6:c.3269dup	ENSP00000384675.2:p.Pro1091AlafsTer16
ENST00000426016.5:c.3269dup	ENSP00000387784.1:p.Pro1091AlafsTer16
NM_005633.3:c.3269dup , LRG_754t1:c.3269dup	NP_005624.2:p.Pro1091AlafsTer16
XM_005264515.3:c.3269dup	XP_005264572.1:p.Pro1091AlafsTer16
XM_011533060.1:c.3362dup	XP_011531362.1:p.Pro1122AlafsTer16
XM_011533061.1:c.3362dup	XP_011531363.1:p.Pro1122AlafsTer16
XM_011533062.1:c.3248dup	XP_011531364.1:p.Pro1084AlafsTer16
XM_011533063.1:c.3245dup	XP_011531365.1:p.Pro1083AlafsTer16
XM_011533064.1:c.3098dup	XP_011531366.1:p.Pro1034AlafsTer16
XM_011533065.1:c.3362dup	XP_011531367.1:p.Pro1122AlafsTer16
XM_011533066.1:c.2204dup	XP_011531368.1:p.Pro736AlafsTer16
XM_005264515.4:c.3269dup	XP_005264572.1:p.Pro1091AlafsTer16
XM_011533062.2:c.3248dup	XP_011531364.1:p.Pro1084AlafsTer16
XM_011533064.2:c.3098dup	XP_011531366.1:p.Pro1034AlafsTer16
NM_001382394.1:c.3248dup	NP_001369323.1:p.Pro1084AlafsTer16
NM_001382395.1:c.3269dup	NP_001369324.1:p.Pro1091AlafsTer16
NM_005633.4:c.3269dup MANE Select	NP_005624.2:p.Pro1091AlafsTer16