Canonical Allele Identifier: CA1139660044

Gene: GLI3

Linked Data

• ClinVar Variation Id: 972686
• ClinVar RCV Id: RCV001248778
• dbSNP Id: rs1787109472

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964637_41964646del , CM000669.2:g.41964637_41964646del	GRCh38
NC_000007.13:g.42004235_42004244del , CM000669.1:g.42004235_42004244del	GRCh37
NC_000007.12:g.41970760_41970769del	NCBI36
NG_008434.1:g.277378_277387del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.4430_4439del MANE Select	ENSP00000379258.3:p.Ser1477PhefsTer8
ENST00000677288.1:c.4256_4265del	ENSP00000503986.1:p.Ser1419PhefsTer8
ENST00000677605.1:c.4430_4439del	ENSP00000503743.1:p.Ser1477PhefsTer8
ENST00000678429.1:c.4430_4439del	ENSP00000502957.1:p.Ser1477PhefsTer8
ENST00000395925.7:c.4430_4439del	ENSP00000379258.3:p.Ser1477PhefsTer8
ENST00000479210.1:n.4407_4416del
NM_000168.5:c.4430_4439del	NP_000159.3:p.Ser1477PhefsTer8
XM_005249703.1:c.4430_4439del	XP_005249760.1:p.Ser1477PhefsTer8
XM_005249704.2:c.4430_4439del	XP_005249761.1:p.Ser1477PhefsTer8
XM_011515272.1:c.4430_4439del	XP_011513574.1:p.Ser1477PhefsTer8
XM_011515273.1:c.4430_4439del	XP_011513575.1:p.Ser1477PhefsTer8
XM_011515274.1:c.4253_4262del	XP_011513576.1:p.Ser1418PhefsTer8
XM_011515274.2:c.4253_4262del	XP_011513576.1:p.Ser1418PhefsTer8
XM_017011997.1:c.4427_4436del	XP_016867486.1:p.Ser1476PhefsTer8
NM_000168.6:c.4430_4439del MANE Select	NP_000159.3:p.Ser1477PhefsTer8