Canonical Allele Identifier: CA2740096408

Gene: SATB2

Linked Data

• ClinVar Variation Id: 3063580
• ClinVar RCV Id: RCV003988174

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348846_199348853del , CM000664.2:g.199348846_199348853del	GRCh38
NC_000002.11:g.200213569_200213576del , CM000664.1:g.200213569_200213576del	GRCh37
NC_000002.10:g.199921814_199921821del	NCBI36
NG_016976.1:g.127415_127422del
NG_016976.2:g.127415_127422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.668_675del	ENSP00000388581.1:p.Asn223ThrfsTer7
ENST00000700191.1:c.668_675del	ENSP00000514853.1:p.Asn223ThrfsTer7
ENST00000700193.1:c.1022_1029del	ENSP00000514854.1:p.Asn341ThrfsTer7
ENST00000700208.1:c.347-76180_347-76173del	ENSP00000514860.1:n.347-76180_347-76173del
ENST00000700210.1:c.676_683del
ENST00000417098.6:c.1022_1029del MANE Select	ENSP00000401112.1:p.Asn341ThrfsTer7
ENST00000260926.9:c.1022_1029del	ENSP00000260926.5:p.Asn341ThrfsTer7
ENST00000417098.5:c.1022_1029del	ENSP00000401112.1:p.Asn341ThrfsTer7
ENST00000428695.5:c.668_675del	ENSP00000388581.1:p.Asn223ThrfsTer7
ENST00000443023.5:c.845_852del	ENSP00000388764.1:p.Asn282ThrfsTer7
ENST00000457245.5:c.1022_1029del	ENSP00000405420.1:p.Asn341ThrfsTer7
ENST00000483346.2:n.661_668del
ENST00000614512.4:c.668_675del	ENSP00000483287.1:p.Asn223ThrfsTer7
NM_001172509.1:c.1022_1029del	NP_001165980.1:p.Asn341ThrfsTer7
NM_001172517.1:c.1022_1029del	NP_001165988.1:p.Asn341ThrfsTer7
NM_015265.3:c.1022_1029del	NP_056080.1:p.Asn341ThrfsTer7
XM_005246396.1:c.848_855del	XP_005246453.1:p.Asn283ThrfsTer7
XM_006712372.1:c.1022_1029del	XP_006712435.1:p.Asn341ThrfsTer7
XM_011510840.1:c.1022_1029del	XP_011509142.1:p.Asn341ThrfsTer7
XM_005246396.3:c.848_855del	XP_005246453.1:p.Asn283ThrfsTer7
XM_011510840.3:c.1022_1029del	XP_011509142.1:p.Asn341ThrfsTer7
XM_017003656.1:c.848_855del	XP_016859145.1:p.Asn283ThrfsTer7
XM_024452767.1:c.599_606del	XP_024308535.1:p.Asn200ThrfsTer7
XM_024452768.1:c.599_606del	XP_024308536.1:p.Asn200ThrfsTer7
NM_001172509.2:c.1022_1029del MANE Select	NP_001165980.1:p.Asn341ThrfsTer7
NM_015265.4:c.1022_1029del	NP_056080.1:p.Asn341ThrfsTer7