Canonical Allele Identifier: CA2596360352

Gene: GLI3

Linked Data

• gnomAD v3: 7-42048737-A-ACAAATATCTC
• gnomAD v4: 7-42048737-A-ACAAATATCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048740_42048749dup , CM000669.2:g.42048740_42048749dup	GRCh38
NC_000007.13:g.42088339_42088348dup , CM000669.1:g.42088339_42088348dup	GRCh37
NC_000007.12:g.42054864_42054873dup	NCBI36
NG_008434.1:g.193273_193282dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.474-51_474-42dup MANE Select	ENSP00000379258.3:n.474-51_474-42dup
ENST00000677288.1:c.297-51_297-42dup	ENSP00000503986.1:n.297-51_297-42dup
ENST00000677605.1:c.474-51_474-42dup	ENSP00000503743.1:n.474-51_474-42dup
ENST00000678429.1:c.474-51_474-42dup	ENSP00000502957.1:n.474-51_474-42dup
ENST00000395925.7:c.474-51_474-42dup	ENSP00000379258.3:n.474-51_474-42dup
ENST00000448703.5:c.474-51_474-42dup	ENSP00000406135.1:n.474-51_474-42dup
ENST00000479210.1:n.451-51_451-42dup
NM_000168.5:c.474-51_474-42dup	NP_000159.3:n.474-51_474-42dup
XM_005249703.1:c.474-51_474-42dup	XP_005249760.1:n.474-51_474-42dup
XM_005249704.2:c.474-51_474-42dup	XP_005249761.1:n.474-51_474-42dup
XM_011515272.1:c.474-51_474-42dup	XP_011513574.1:n.474-51_474-42dup
XM_011515273.1:c.474-51_474-42dup	XP_011513575.1:n.474-51_474-42dup
XM_011515274.1:c.297-51_297-42dup	XP_011513576.1:n.297-51_297-42dup
XM_011515274.2:c.297-51_297-42dup	XP_011513576.1:n.297-51_297-42dup
XM_017011997.1:c.471-51_471-42dup	XP_016867486.1:n.471-51_471-42dup
NM_000168.6:c.474-51_474-42dup MANE Select	NP_000159.3:n.474-51_474-42dup