Canonical Allele Identifier: CA2739292308

Gene: SATB2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348950_199348961dup , CM000664.2:g.199348950_199348961dup	GRCh38
NC_000002.11:g.200213673_200213684dup , CM000664.1:g.200213673_200213684dup	GRCh37
NC_000002.10:g.199921918_199921929dup	NCBI36
NG_016976.1:g.127310_127321dup
NG_016976.2:g.127310_127321dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.563_574dup	ENSP00000388581.1:p.Gln191_Gln192insLeuValArgGln
ENST00000700191.1:c.563_574dup	ENSP00000514853.1:p.Gln191_Gln192insLeuValArgGln
ENST00000700193.1:c.917_928dup	ENSP00000514854.1:p.Gln309_Gln310insLeuValArgGln
ENST00000700208.1:c.347-76285_347-76274dup	ENSP00000514860.1:n.347-76285_347-76274dup
ENST00000700210.1:c.571_582dup
ENST00000417098.6:c.917_928dup MANE Select	ENSP00000401112.1:p.Gln309_Gln310insLeuValArgGln
ENST00000260926.9:c.917_928dup	ENSP00000260926.5:p.Gln309_Gln310insLeuValArgGln
ENST00000417098.5:c.917_928dup	ENSP00000401112.1:p.Gln309_Gln310insLeuValArgGln
ENST00000428695.5:c.563_574dup	ENSP00000388581.1:p.Gln191_Gln192insLeuValArgGln
ENST00000443023.5:c.740_751dup	ENSP00000388764.1:p.Gln250_Gln251insLeuValArgGln
ENST00000457245.5:c.917_928dup	ENSP00000405420.1:p.Gln309_Gln310insLeuValArgGln
ENST00000483346.2:n.556_567dup
ENST00000614512.4:c.563_574dup	ENSP00000483287.1:p.Gln191_Gln192insLeuValArgGln
NM_001172509.1:c.917_928dup	NP_001165980.1:p.Gln309_Gln310insLeuValArgGln
NM_001172517.1:c.917_928dup	NP_001165988.1:p.Gln309_Gln310insLeuValArgGln
NM_015265.3:c.917_928dup	NP_056080.1:p.Gln309_Gln310insLeuValArgGln
XM_005246396.1:c.743_754dup	XP_005246453.1:p.Gln251_Gln252insLeuValArgGln
XM_006712372.1:c.917_928dup	XP_006712435.1:p.Gln309_Gln310insLeuValArgGln
XM_011510840.1:c.917_928dup	XP_011509142.1:p.Gln309_Gln310insLeuValArgGln
XM_005246396.3:c.743_754dup	XP_005246453.1:p.Gln251_Gln252insLeuValArgGln
XM_011510840.3:c.917_928dup	XP_011509142.1:p.Gln309_Gln310insLeuValArgGln
XM_017003656.1:c.743_754dup	XP_016859145.1:p.Gln251_Gln252insLeuValArgGln
XM_024452767.1:c.494_505dup	XP_024308535.1:p.Gln168_Gln169insLeuValArgGln
XM_024452768.1:c.494_505dup	XP_024308536.1:p.Gln168_Gln169insLeuValArgGln
NM_001172509.2:c.917_928dup MANE Select	NP_001165980.1:p.Gln309_Gln310insLeuValArgGln
NM_015265.4:c.917_928dup	NP_056080.1:p.Gln309_Gln310insLeuValArgGln