Canonical Allele Identifier: CA1100623589

Gene: GLI3

Linked Data

• dbSNP Id: rs1787083509
• gnomAD v3: 7-41964066-T-TG
• gnomAD v4: 7-41964066-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964066_41964067insG , CM000669.2:g.41964066_41964067insG	GRCh38
NC_000007.13:g.42003664_42003665insG , CM000669.1:g.42003664_42003665insG	GRCh37
NC_000007.12:g.41970189_41970190insG	NCBI36
NG_008434.1:g.277954_277955insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*263_*264insC MANE Select	ENSP00000379258.3:n.*263_*264insC
ENST00000677288.1:c.*263_*264insC	ENSP00000503986.1:n.*263_*264insC
ENST00000677605.1:c.*263_*264insC	ENSP00000503743.1:n.*263_*264insC
ENST00000678429.1:c.*263_*264insC	ENSP00000502957.1:n.*263_*264insC
ENST00000395925.7:c.*263_*264insC	ENSP00000379258.3:n.*263_*264insC
NM_000168.5:c.*263_*264insC	NP_000159.3:n.*263_*264insC
XM_005249703.1:c.*263_*264insC	XP_005249760.1:n.*263_*264insC
XM_005249704.2:c.*263_*264insC	XP_005249761.1:n.*263_*264insC
XM_011515272.1:c.*263_*264insC	XP_011513574.1:n.*263_*264insC
XM_011515273.1:c.*263_*264insC	XP_011513575.1:n.*263_*264insC
XM_011515274.1:c.*263_*264insC	XP_011513576.1:n.*263_*264insC
NM_000168.6:c.*263_*264insC MANE Select	NP_000159.3:n.*263_*264insC