Canonical Allele Identifier: CA2499218888

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1120244
• ClinVar RCV Id: RCV001450030
• dbSNP Id: rs2128709905

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972383del , CM000669.2:g.41972383del	GRCh38
NC_000007.13:g.42011982del , CM000669.1:g.42011982del	GRCh37
NC_000007.12:g.41978507del	NCBI36
NG_008434.1:g.269639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2059del MANE Select	ENSP00000379258.3:p.Glu687LysfsTer6
ENST00000677288.1:c.1885del	ENSP00000503986.1:p.Glu629LysfsTer6
ENST00000677605.1:c.2059del	ENSP00000503743.1:p.Glu687LysfsTer6
ENST00000678429.1:c.2059del	ENSP00000502957.1:p.Glu687LysfsTer6
ENST00000395925.7:c.2059del	ENSP00000379258.3:p.Glu687LysfsTer6
ENST00000479210.1:n.2036del
NM_000168.5:c.2059del	NP_000159.3:p.Glu687LysfsTer6
XM_005249703.1:c.2059del	XP_005249760.1:p.Glu687LysfsTer6
XM_005249704.2:c.2059del	XP_005249761.1:p.Glu687LysfsTer6
XM_011515272.1:c.2059del	XP_011513574.1:p.Glu687LysfsTer6
XM_011515273.1:c.2059del	XP_011513575.1:p.Glu687LysfsTer6
XM_011515274.1:c.1882del	XP_011513576.1:p.Glu628LysfsTer6
XM_011515274.2:c.1882del	XP_011513576.1:p.Glu628LysfsTer6
XM_017011997.1:c.2056del	XP_016867486.1:p.Glu686LysfsTer6
NM_000168.6:c.2059del MANE Select	NP_000159.3:p.Glu687LysfsTer6