Canonical Allele Identifier: CA2682512105

Gene: GLI3

Linked Data

• gnomAD v4: 7-42048754-C-CCTGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048754_42048755insCTGTGG , CM000669.2:g.42048754_42048755insCTGTGG	GRCh38
NC_000007.13:g.42088353_42088354insCTGTGG , CM000669.1:g.42088353_42088354insCTGTGG	GRCh37
NC_000007.12:g.42054878_42054879insCTGTGG	NCBI36
NG_008434.1:g.193265_193266insCCACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.474-59_474-58insCCACAG MANE Select	ENSP00000379258.3:n.474-59_474-58insCCACAG
ENST00000677288.1:c.297-59_297-58insCCACAG	ENSP00000503986.1:n.297-59_297-58insCCACAG
ENST00000677605.1:c.474-59_474-58insCCACAG	ENSP00000503743.1:n.474-59_474-58insCCACAG
ENST00000678429.1:c.474-59_474-58insCCACAG	ENSP00000502957.1:n.474-59_474-58insCCACAG
ENST00000395925.7:c.474-59_474-58insCCACAG	ENSP00000379258.3:n.474-59_474-58insCCACAG
ENST00000448703.5:c.474-59_474-58insCCACAG	ENSP00000406135.1:n.474-59_474-58insCCACAG
ENST00000479210.1:n.451-59_451-58insCCACAG
NM_000168.5:c.474-59_474-58insCCACAG	NP_000159.3:n.474-59_474-58insCCACAG
XM_005249703.1:c.474-59_474-58insCCACAG	XP_005249760.1:n.474-59_474-58insCCACAG
XM_005249704.2:c.474-59_474-58insCCACAG	XP_005249761.1:n.474-59_474-58insCCACAG
XM_011515272.1:c.474-59_474-58insCCACAG	XP_011513574.1:n.474-59_474-58insCCACAG
XM_011515273.1:c.474-59_474-58insCCACAG	XP_011513575.1:n.474-59_474-58insCCACAG
XM_011515274.1:c.297-59_297-58insCCACAG	XP_011513576.1:n.297-59_297-58insCCACAG
XM_011515274.2:c.297-59_297-58insCCACAG	XP_011513576.1:n.297-59_297-58insCCACAG
XM_017011997.1:c.471-59_471-58insCCACAG	XP_016867486.1:n.471-59_471-58insCCACAG
NM_000168.6:c.474-59_474-58insCCACAG MANE Select	NP_000159.3:n.474-59_474-58insCCACAG