Canonical Allele Identifier: CA156900871

Gene: GLI3

Linked Data

• dbSNP Id: rs550264781
• gnomAD v2: 7-42003662-G-GTT
• gnomAD v3: 7-41964064-G-GTT
• gnomAD v4: 7-41964064-G-GTT
• MyVariant Identifiers: chr7:g.42003663_42003664insTT (hg19) ; chr7:g.42003662_42003663insTT (hg19) ; chr7:g.41964065_41964066insTT (hg38) ; chr7:g.41964064_41964065insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964080_41964081dup , CM000669.2:g.41964080_41964081dup	GRCh38
NC_000007.13:g.42003678_42003679dup , CM000669.1:g.42003678_42003679dup	GRCh37
NC_000007.12:g.41970203_41970204dup	NCBI36
NG_008434.1:g.277955_277956dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*264_*265dup MANE Select	ENSP00000379258.3:n.*264_*265dup
ENST00000677288.1:c.*264_*265dup	ENSP00000503986.1:n.*264_*265dup
ENST00000677605.1:c.*264_*265dup	ENSP00000503743.1:n.*264_*265dup
ENST00000678429.1:c.*264_*265dup	ENSP00000502957.1:n.*264_*265dup
ENST00000395925.7:c.*264_*265dup	ENSP00000379258.3:n.*264_*265dup
NM_000168.5:c.*264_*265dup	NP_000159.3:n.*264_*265dup
XM_005249703.1:c.*264_*265dup	XP_005249760.1:n.*264_*265dup
XM_005249704.2:c.*264_*265dup	XP_005249761.1:n.*264_*265dup
XM_011515272.1:c.*264_*265dup	XP_011513574.1:n.*264_*265dup
XM_011515273.1:c.*264_*265dup	XP_011513575.1:n.*264_*265dup
XM_011515274.1:c.*264_*265dup	XP_011513576.1:n.*264_*265dup
NM_000168.6:c.*264_*265dup MANE Select	NP_000159.3:n.*264_*265dup