Canonical Allele Identifier: CA838609554

Gene: GLI3

Linked Data

• dbSNP Id: rs34148485
• gnomAD v4: 7-42148135-G-GCACACACACACACA
• MyVariant Identifiers: chr7:g.42187734_42187735insCACACACACACACA (hg19) ; chr7:g.42148135_42148136insCACACACACACACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42148164_42148177dup , CM000669.2:g.42148164_42148177dup	GRCh38
NC_000007.13:g.42187763_42187776dup , CM000669.1:g.42187763_42187776dup	GRCh37
NC_000007.12:g.42154288_42154301dup	NCBI36
NG_008434.1:g.93871_93884dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.367+77_367+90dup MANE Select	ENSP00000379258.3:n.367+77_367+90dup
ENST00000642432.1:c.190+77_190+90dup	ENSP00000495498.1:n.190+77_190+90dup
ENST00000643264.1:c.190+77_190+90dup	ENSP00000495207.1:n.190+77_190+90dup
ENST00000647255.1:c.190+77_190+90dup	ENSP00000495745.1:n.190+77_190+90dup
ENST00000677288.1:c.190+77_190+90dup	ENSP00000503986.1:n.190+77_190+90dup
ENST00000677605.1:c.367+77_367+90dup	ENSP00000503743.1:n.367+77_367+90dup
ENST00000678429.1:c.367+77_367+90dup	ENSP00000502957.1:n.367+77_367+90dup
ENST00000395925.7:c.367+77_367+90dup	ENSP00000379258.3:n.367+77_367+90dup
ENST00000448703.5:c.367+77_367+90dup	ENSP00000406135.1:n.367+77_367+90dup
ENST00000479210.1:n.344+77_344+90dup
NM_000168.5:c.367+77_367+90dup	NP_000159.3:n.367+77_367+90dup
XM_005249703.1:c.367+77_367+90dup	XP_005249760.1:n.367+77_367+90dup
XM_005249704.2:c.367+77_367+90dup	XP_005249761.1:n.367+77_367+90dup
XM_011515272.1:c.367+77_367+90dup	XP_011513574.1:n.367+77_367+90dup
XM_011515273.1:c.367+77_367+90dup	XP_011513575.1:n.367+77_367+90dup
XM_011515274.1:c.190+77_190+90dup	XP_011513576.1:n.190+77_190+90dup
XM_011515274.2:c.190+77_190+90dup	XP_011513576.1:n.190+77_190+90dup
XM_017011997.1:c.364+77_364+90dup	XP_016867486.1:n.364+77_364+90dup
NM_000168.6:c.367+77_367+90dup MANE Select	NP_000159.3:n.367+77_367+90dup