Canonical Allele Identifier: CA838573139

Gene: GLI3

Linked Data

• dbSNP Id: rs1205399373
• MyVariant Identifiers: chr7:g.42079963_42079964insCTCCTCC (hg19) ; chr7:g.42040364_42040365insCTCCTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040366_42040372dup , CM000669.2:g.42040366_42040372dup	GRCh38
NC_000007.13:g.42079965_42079971dup , CM000669.1:g.42079965_42079971dup	GRCh37
NC_000007.12:g.42046490_42046496dup	NCBI36
NG_008434.1:g.201649_201655dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.827-132_827-126dup MANE Select	ENSP00000379258.3:n.827-132_827-126dup
ENST00000677288.1:c.650-132_650-126dup	ENSP00000503986.1:n.650-132_650-126dup
ENST00000677605.1:c.827-132_827-126dup	ENSP00000503743.1:n.827-132_827-126dup
ENST00000678429.1:c.827-132_827-126dup	ENSP00000502957.1:n.827-132_827-126dup
ENST00000395925.7:c.827-132_827-126dup	ENSP00000379258.3:n.827-132_827-126dup
ENST00000479210.1:n.804-132_804-126dup
NM_000168.5:c.827-132_827-126dup	NP_000159.3:n.827-132_827-126dup
XM_005249703.1:c.827-132_827-126dup	XP_005249760.1:n.827-132_827-126dup
XM_005249704.2:c.827-132_827-126dup	XP_005249761.1:n.827-132_827-126dup
XM_011515272.1:c.827-132_827-126dup	XP_011513574.1:n.827-132_827-126dup
XM_011515273.1:c.827-132_827-126dup	XP_011513575.1:n.827-132_827-126dup
XM_011515274.1:c.650-132_650-126dup	XP_011513576.1:n.650-132_650-126dup
XM_011515274.2:c.650-132_650-126dup	XP_011513576.1:n.650-132_650-126dup
XM_017011997.1:c.824-132_824-126dup	XP_016867486.1:n.824-132_824-126dup
NM_000168.6:c.827-132_827-126dup MANE Select	NP_000159.3:n.827-132_827-126dup