Canonical Allele Identifier: CA341302
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 13815
ClinVar RCV Id: RCV000014826
dbSNP Id: rs116840743

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41972430del , CM000669.2:g.41972430del GRCh38
NC_000007.13:g.42012029del , CM000669.1:g.42012029del GRCh37
NC_000007.12:g.41978554del NCBI36
NG_008434.1:g.269592del

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2012del MANE Select ENSP00000379258.3:p.Gly671GlufsTer22
ENST00000677288.1:c.1838del ENSP00000503986.1:p.Gly613GlufsTer22
ENST00000677605.1:c.2012del ENSP00000503743.1:p.Gly671GlufsTer22
ENST00000678429.1:c.2012del ENSP00000502957.1:p.Gly671GlufsTer22
ENST00000395925.7:c.2012del ENSP00000379258.3:p.Gly671GlufsTer22
ENST00000479210.1:n.1989del
NM_000168.5:c.2012del NP_000159.3:p.Gly671GlufsTer22
XM_005249703.1:c.2012del XP_005249760.1:p.Gly671GlufsTer22
XM_005249704.2:c.2012del XP_005249761.1:p.Gly671GlufsTer22
XM_011515272.1:c.2012del XP_011513574.1:p.Gly671GlufsTer22
XM_011515273.1:c.2012del XP_011513575.1:p.Gly671GlufsTer22
XM_011515274.1:c.1835del XP_011513576.1:p.Gly612GlufsTer22
XM_011515274.2:c.1835del XP_011513576.1:p.Gly612GlufsTer22
XM_017011997.1:c.2009del XP_016867486.1:p.Gly670GlufsTer22
NM_000168.6:c.2012del MANE Select NP_000159.3:p.Gly671GlufsTer22