Canonical Allele Identifier: CA156900919

Gene: GLI3

Linked Data

• dbSNP Id: rs1039928005
• gnomAD v2: 7-42003668-T-TG
• gnomAD v3: 7-41964070-T-TG
• gnomAD v4: 7-41964070-T-TG
• MyVariant Identifiers: chr7:g.42003668_42003669insG (hg19) ; chr7:g.41964070_41964071insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964070_41964071insG , CM000669.2:g.41964070_41964071insG	GRCh38
NC_000007.13:g.42003668_42003669insG , CM000669.1:g.42003668_42003669insG	GRCh37
NC_000007.12:g.41970193_41970194insG	NCBI36
NG_008434.1:g.277950_277951insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*259_*260insC MANE Select	ENSP00000379258.3:n.*259_*260insC
ENST00000677288.1:c.*259_*260insC	ENSP00000503986.1:n.*259_*260insC
ENST00000677605.1:c.*259_*260insC	ENSP00000503743.1:n.*259_*260insC
ENST00000678429.1:c.*259_*260insC	ENSP00000502957.1:n.*259_*260insC
ENST00000395925.7:c.*259_*260insC	ENSP00000379258.3:n.*259_*260insC
NM_000168.5:c.*259_*260insC	NP_000159.3:n.*259_*260insC
XM_005249703.1:c.*259_*260insC	XP_005249760.1:n.*259_*260insC
XM_005249704.2:c.*259_*260insC	XP_005249761.1:n.*259_*260insC
XM_011515272.1:c.*259_*260insC	XP_011513574.1:n.*259_*260insC
XM_011515273.1:c.*259_*260insC	XP_011513575.1:n.*259_*260insC
XM_011515274.1:c.*259_*260insC	XP_011513576.1:n.*259_*260insC
NM_000168.6:c.*259_*260insC MANE Select	NP_000159.3:n.*259_*260insC