Canonical Allele Identifier: CA156900918

Gene: GLI3

Linked Data

• dbSNP Id: rs941476453
• gnomAD v2: 7-42003667-T-TG
• gnomAD v3: 7-41964069-T-TG
• gnomAD v4: 7-41964069-T-TG
• MyVariant Identifiers: chr7:g.42003667_42003668insG (hg19) ; chr7:g.41964069_41964070insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964069_41964070insG , CM000669.2:g.41964069_41964070insG	GRCh38
NC_000007.13:g.42003667_42003668insG , CM000669.1:g.42003667_42003668insG	GRCh37
NC_000007.12:g.41970192_41970193insG	NCBI36
NG_008434.1:g.277951_277952insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*260_*261insC MANE Select	ENSP00000379258.3:n.*260_*261insC
ENST00000677288.1:c.*260_*261insC	ENSP00000503986.1:n.*260_*261insC
ENST00000677605.1:c.*260_*261insC	ENSP00000503743.1:n.*260_*261insC
ENST00000678429.1:c.*260_*261insC	ENSP00000502957.1:n.*260_*261insC
ENST00000395925.7:c.*260_*261insC	ENSP00000379258.3:n.*260_*261insC
NM_000168.5:c.*260_*261insC	NP_000159.3:n.*260_*261insC
XM_005249703.1:c.*260_*261insC	XP_005249760.1:n.*260_*261insC
XM_005249704.2:c.*260_*261insC	XP_005249761.1:n.*260_*261insC
XM_011515272.1:c.*260_*261insC	XP_011513574.1:n.*260_*261insC
XM_011515273.1:c.*260_*261insC	XP_011513575.1:n.*260_*261insC
XM_011515274.1:c.*260_*261insC	XP_011513576.1:n.*260_*261insC
NM_000168.6:c.*260_*261insC MANE Select	NP_000159.3:n.*260_*261insC