Canonical Allele Identifier: CA2753826583
Gene: SATB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199455987_199455988del , CM000664.2:g.199455987_199455988del GRCh38
NC_000002.11:g.200320710_200320711del , CM000664.1:g.200320710_200320711del GRCh37
NC_000002.10:g.200028955_200028956del NCBI36
NG_016976.1:g.20279_20280del
NG_016976.2:g.20279_20280del

Transcript Alleles

HGVS Amino-acid Change
ENST00000428695.6:c.50_51del ENSP00000388581.1:p.Arg17GlnfsTer?
ENST00000700191.1:c.50_51del ENSP00000514853.1:p.Arg17GlnfsTer?
ENST00000700193.1:c.50_51del ENSP00000514854.1:p.Arg17GlnfsTer?
ENST00000700194.1:n.308_309del
ENST00000700208.1:c.50_51del ENSP00000514860.1:p.Arg17GlnfsTer?
ENST00000417098.6:c.50_51del MANE Select ENSP00000401112.1:p.Arg17GlnfsTer?
ENST00000260926.9:c.50_51del ENSP00000260926.5:p.Arg17GlnfsTer?
ENST00000417098.5:c.50_51del ENSP00000401112.1:p.Arg17GlnfsTer?
ENST00000428695.5:c.50_51del ENSP00000388581.1:p.Arg17GlnfsTer?
ENST00000440919.1:c.50_51del ENSP00000415610.1:p.Arg17GlnfsTer?
ENST00000443023.5:c.50_51del ENSP00000388764.1:p.Arg17GlnfsTer?
ENST00000457245.5:c.50_51del ENSP00000405420.1:p.Arg17GlnfsTer?
ENST00000614512.4:c.50_51del ENSP00000483287.1:p.Arg17GlnfsTer?
NM_001172509.1:c.50_51del NP_001165980.1:p.Arg17GlnfsTer?
NM_001172517.1:c.50_51del NP_001165988.1:p.Arg17GlnfsTer?
NM_015265.3:c.50_51del NP_056080.1:p.Arg17GlnfsTer?
XM_005246396.1:c.-6+4464_-6+4465del XP_005246453.1:n.-6+4464_-6+4465del
XM_006712372.1:c.50_51del XP_006712435.1:p.Arg17GlnfsTer?
XM_011510840.1:c.50_51del XP_011509142.1:p.Arg17GlnfsTer?
NR_134967.1:n.867_868del
XM_005246396.3:c.-6+4464_-6+4465del XP_005246453.1:n.-6+4464_-6+4465del
XM_011510840.3:c.50_51del XP_011509142.1:p.Arg17GlnfsTer?
XM_017003656.1:c.-6+4464_-6+4465del XP_016859145.1:n.-6+4464_-6+4465del
NM_001172509.2:c.50_51del MANE Select NP_001165980.1:p.Arg17GlnfsTer?
NM_015265.4:c.50_51del NP_056080.1:p.Arg17GlnfsTer?
NR_134967.2:n.710_711del