Canonical Allele Identifier: CA1320151680

Gene: SATB2

Linked Data

• dbSNP Id: rs1688731645

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348912_199348913insG , CM000664.2:g.199348912_199348913insG	GRCh38
NC_000002.11:g.200213635_200213636insG , CM000664.1:g.200213635_200213636insG	GRCh37
NC_000002.10:g.199921880_199921881insG	NCBI36
NG_016976.1:g.127354_127355insC
NG_016976.2:g.127354_127355insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000428695.6:c.607_608insC	ENSP00000388581.1:p.Ile203ThrfsTer4
ENST00000700191.1:c.607_608insC	ENSP00000514853.1:p.Ile203ThrfsTer4
ENST00000700193.1:c.961_962insC	ENSP00000514854.1:p.Ile321ThrfsTer4
ENST00000700208.1:c.347-76241_347-76240insC	ENSP00000514860.1:n.347-76241_347-76240in...
ENST00000700210.1:c.615_616insC
ENST00000417098.6:c.961_962insC MANE Select	ENSP00000401112.1:p.Ile321ThrfsTer4
ENST00000260926.9:c.961_962insC	ENSP00000260926.5:p.Ile321ThrfsTer4
ENST00000417098.5:c.961_962insC	ENSP00000401112.1:p.Ile321ThrfsTer4
ENST00000428695.5:c.607_608insC	ENSP00000388581.1:p.Ile203ThrfsTer4
ENST00000443023.5:c.784_785insC	ENSP00000388764.1:p.Ile262ThrfsTer4
ENST00000457245.5:c.961_962insC	ENSP00000405420.1:p.Ile321ThrfsTer4
ENST00000483346.2:n.600_601insC
ENST00000614512.4:c.607_608insC	ENSP00000483287.1:p.Ile203ThrfsTer4
NM_001172509.1:c.961_962insC	NP_001165980.1:p.Ile321ThrfsTer4
NM_001172517.1:c.961_962insC	NP_001165988.1:p.Ile321ThrfsTer4
NM_015265.3:c.961_962insC	NP_056080.1:p.Ile321ThrfsTer4
XM_005246396.1:c.787_788insC	XP_005246453.1:p.Ile263ThrfsTer4
XM_006712372.1:c.961_962insC	XP_006712435.1:p.Ile321ThrfsTer4
XM_011510840.1:c.961_962insC	XP_011509142.1:p.Ile321ThrfsTer4
XM_005246396.3:c.787_788insC	XP_005246453.1:p.Ile263ThrfsTer4
XM_011510840.3:c.961_962insC	XP_011509142.1:p.Ile321ThrfsTer4
XM_017003656.1:c.787_788insC	XP_016859145.1:p.Ile263ThrfsTer4
XM_024452767.1:c.538_539insC	XP_024308535.1:p.Ile180ThrfsTer4
XM_024452768.1:c.538_539insC	XP_024308536.1:p.Ile180ThrfsTer4
NM_001172509.2:c.961_962insC MANE Select	NP_001165980.1:p.Ile321ThrfsTer4
NM_015265.4:c.961_962insC	NP_056080.1:p.Ile321ThrfsTer4