Canonical Allele Identifier: CA573767915

Gene: GLI3

Linked Data

• dbSNP Id: rs1289493352
• gnomAD v2: 7-42001236-G-GCC
• gnomAD v3: 7-41961638-G-GCC
• gnomAD v4: 7-41961638-G-GCC
• MyVariant Identifiers: chr7:g.42001236_42001237insCC (hg19) ; chr7:g.41961638_41961639insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41961638_41961639insCC , CM000669.2:g.41961638_41961639insCC	GRCh38
NC_000007.13:g.42001236_42001237insCC , CM000669.1:g.42001236_42001237insCC	GRCh37
NC_000007.12:g.41967761_41967762insCC	NCBI36
NG_008434.1:g.280382_280383insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*2691_*2692insGG MANE Select	ENSP00000379258.3:n.*2691_*2692insGG
ENST00000677288.1:c.*2691_*2692insGG	ENSP00000503986.1:n.*2691_*2692insGG
ENST00000677605.1:c.*2691_*2692insGG	ENSP00000503743.1:n.*2691_*2692insGG
ENST00000678429.1:c.*2691_*2692insGG	ENSP00000502957.1:n.*2691_*2692insGG
ENST00000395925.7:c.*2691_*2692insGG	ENSP00000379258.3:n.*2691_*2692insGG
NM_000168.5:c.*2691_*2692insGG	NP_000159.3:n.*2691_*2692insGG
XM_005249703.1:c.*2691_*2692insGG	XP_005249760.1:n.*2691_*2692insGG
XM_005249704.2:c.*2691_*2692insGG	XP_005249761.1:n.*2691_*2692insGG
XM_011515272.1:c.*2691_*2692insGG	XP_011513574.1:n.*2691_*2692insGG
XM_011515273.1:c.*2691_*2692insGG	XP_011513575.1:n.*2691_*2692insGG
XM_011515274.1:c.*2691_*2692insGG	XP_011513576.1:n.*2691_*2692insGG
NM_000168.6:c.*2691_*2692insGG MANE Select	NP_000159.3:n.*2691_*2692insGG