Canonical Allele Identifier: CA2658715474

Gene: SOS1

Linked Data

• gnomAD v4: 2-39022921-CATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022923_39022925del , CM000664.2:g.39022923_39022925del	GRCh38
NC_000002.11:g.39250064_39250066del , CM000664.1:g.39250064_39250066del	GRCh37
NC_000002.10:g.39103568_39103570del	NCBI36
NG_007530.1:g.102540_102542del , LRG_754:g.102540_102542del

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1384_1386del
ENST00000685279.1:c.271_273del	ENSP00000509424.1:p.Asn91del
ENST00000688043.1:n.1725_1727del
ENST00000689668.1:n.1511_1513del
ENST00000690876.1:c.1393_1395del	ENSP00000508955.1:p.Asn465del
ENST00000691229.1:c.1393_1395del	ENSP00000510437.1:p.Asn465del
ENST00000692089.1:c.1393_1395del	ENSP00000508626.1:p.Asn465del
ENST00000692620.1:c.271_273del	ENSP00000509311.1:p.Asn91del
ENST00000402219.8:c.1504_1506del MANE Select	ENSP00000384675.2:p.Asn502del
ENST00000395038.6:c.1504_1506del	ENSP00000378479.2:p.Asn502del
ENST00000402219.6:c.1504_1506del	ENSP00000384675.2:p.Asn502del
ENST00000426016.5:c.1504_1506del	ENSP00000387784.1:p.Asn502del
ENST00000472480.1:n.348_350del
NM_005633.3:c.1504_1506del , LRG_754t1:c.1504_1506del	NP_005624.2:p.Asn502del
XM_005264515.3:c.1504_1506del	XP_005264572.1:p.Asn502del
XM_011533060.1:c.1597_1599del	XP_011531362.1:p.Asn533del
XM_011533061.1:c.1597_1599del	XP_011531363.1:p.Asn533del
XM_011533062.1:c.1483_1485del	XP_011531364.1:p.Asn495del
XM_011533063.1:c.1480_1482del	XP_011531365.1:p.Asn494del
XM_011533064.1:c.1333_1335del	XP_011531366.1:p.Asn445del
XM_011533065.1:c.1597_1599del	XP_011531367.1:p.Asn533del
XM_011533066.1:c.439_441del	XP_011531368.1:p.Asn147del
XM_005264515.4:c.1504_1506del	XP_005264572.1:p.Asn502del
XM_011533062.2:c.1483_1485del	XP_011531364.1:p.Asn495del
XM_011533064.2:c.1333_1335del	XP_011531366.1:p.Asn445del
NM_001382394.1:c.1483_1485del	NP_001369323.1:p.Asn495del
NM_001382395.1:c.1504_1506del	NP_001369324.1:p.Asn502del
NM_005633.4:c.1504_1506del MANE Select	NP_005624.2:p.Asn502del