Canonical Allele Identifier: CA16618461

Gene: GLI3

Linked Data

• ClinVar Variation Id: 423252
• ClinVar RCV Id: RCV000486434 ; RCV002481531
• dbSNP Id: rs1064796326

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965932_41965933delinsTG , CM000669.2:g.41965932_41965933delinsTG	GRCh38
NC_000007.13:g.42005530_42005531delinsTG , CM000669.1:g.42005530_42005531delinsTG	GRCh37
NC_000007.12:g.41972055_41972056delinsTG	NCBI36
NG_008434.1:g.276088_276089delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3140_3141delinsCA MANE Select	ENSP00000379258.3:p.Gln1047Pro
ENST00000677288.1:c.2966_2967delinsCA	ENSP00000503986.1:p.Gln989Pro
ENST00000677605.1:c.3140_3141delinsCA	ENSP00000503743.1:p.Gln1047Pro
ENST00000678429.1:c.3140_3141delinsCA	ENSP00000502957.1:p.Gln1047Pro
ENST00000395925.7:c.3140_3141delinsCA	ENSP00000379258.3:p.Gln1047Pro
ENST00000479210.1:n.3117_3118delinsCA
NM_000168.5:c.3140_3141delinsCA	NP_000159.3:p.Gln1047Pro
XM_005249703.1:c.3140_3141delinsCA	XP_005249760.1:p.Gln1047Pro
XM_005249704.2:c.3140_3141delinsCA	XP_005249761.1:p.Gln1047Pro
XM_011515272.1:c.3140_3141delinsCA	XP_011513574.1:p.Gln1047Pro
XM_011515273.1:c.3140_3141delinsCA	XP_011513575.1:p.Gln1047Pro
XM_011515274.1:c.2963_2964delinsCA	XP_011513576.1:p.Gln988Pro
XM_011515274.2:c.2963_2964delinsCA	XP_011513576.1:p.Gln988Pro
XM_017011997.1:c.3137_3138delinsCA	XP_016867486.1:p.Gln1046Pro
NM_000168.6:c.3140_3141delinsCA MANE Select	NP_000159.3:p.Gln1047Pro