Canonical Allele Identifier: CA16617411
Gene: SATB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419365
ClinVar RCV Id: RCV000479959
dbSNP Id: rs1064793820

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.199380481del , CM000664.2:g.199380481del GRCh38
NC_000002.11:g.200245204del , CM000664.1:g.200245204del GRCh37
NC_000002.10:g.199953449del NCBI36
NG_016976.1:g.95788del
NG_016976.2:g.95788del

Transcript Alleles

HGVS Amino-acid change
ENST00000428695.6:c.347-31306del ENSP00000388581.1:n.347-31306del
ENST00000700191.1:c.347-31306del ENSP00000514853.1:n.347-31306del
ENST00000700193.1:c.482del ENSP00000514854.1:p.Lys161SerfsTer19
ENST00000700208.1:c.346+52859del ENSP00000514860.1:n.346+52859del
ENST00000700210.1:c.136del
ENST00000417098.6:c.482del MANE Select ENSP00000401112.1:p.Lys161SerfsTer19
ENST00000260926.9:c.482del ENSP00000260926.5:p.Lys161SerfsTer19
ENST00000417098.5:c.482del ENSP00000401112.1:p.Lys161SerfsTer19
ENST00000428695.5:c.347-31306del ENSP00000388581.1:n.347-31306del
ENST00000443023.5:c.305del ENSP00000388764.1:p.Lys102SerfsTer19
ENST00000457245.5:c.482del ENSP00000405420.1:p.Lys161SerfsTer19
ENST00000484124.1:n.366del
ENST00000614512.4:c.347-31306del ENSP00000483287.1:n.347-31306del
NM_001172509.1:c.482del NP_001165980.1:p.Lys161SerfsTer19
NM_001172517.1:c.482del NP_001165988.1:p.Lys161SerfsTer19
NM_015265.3:c.482del NP_056080.1:p.Lys161SerfsTer19
XM_005246396.1:c.308del XP_005246453.1:p.Lys103SerfsTer19
XM_006712372.1:c.482del XP_006712435.1:p.Lys161SerfsTer19
XM_011510840.1:c.482del XP_011509142.1:p.Lys161SerfsTer19
XM_005246396.3:c.308del XP_005246453.1:p.Lys103SerfsTer19
XM_011510840.3:c.482del XP_011509142.1:p.Lys161SerfsTer19
XM_017003656.1:c.308del XP_016859145.1:p.Lys103SerfsTer19
XM_024452767.1:c.59del XP_024308535.1:p.Lys20SerfsTer19
XM_024452768.1:c.59del XP_024308536.1:p.Lys20SerfsTer19
NM_001172509.2:c.482del MANE Select NP_001165980.1:p.Lys161SerfsTer19
NM_015265.4:c.482del NP_056080.1:p.Lys161SerfsTer19