Canonical Allele Identifier: CA156913395

Gene: GLI3

Linked Data

• dbSNP Id: rs1015425657
• gnomAD v2: 7-42011761-C-CT
• gnomAD v3: 7-41972162-C-CT
• gnomAD v4: 7-41972162-C-CT
• MyVariant Identifiers: chr7:g.42011761_42011762insT (hg19) ; chr7:g.41972162_41972163insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972167dup , CM000669.2:g.41972167dup	GRCh38
NC_000007.13:g.42011766dup , CM000669.1:g.42011766dup	GRCh37
NC_000007.12:g.41978291dup	NCBI36
NG_008434.1:g.269857dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2103+174dup MANE Select	ENSP00000379258.3:n.2103+174dup
ENST00000677288.1:c.1929+174dup	ENSP00000503986.1:n.1929+174dup
ENST00000677605.1:c.2103+174dup	ENSP00000503743.1:n.2103+174dup
ENST00000678429.1:c.2103+174dup	ENSP00000502957.1:n.2103+174dup
ENST00000395925.7:c.2103+174dup	ENSP00000379258.3:n.2103+174dup
ENST00000479210.1:n.2080+174dup
NM_000168.5:c.2103+174dup	NP_000159.3:n.2103+174dup
XM_005249703.1:c.2103+174dup	XP_005249760.1:n.2103+174dup
XM_005249704.2:c.2103+174dup	XP_005249761.1:n.2103+174dup
XM_011515272.1:c.2103+174dup	XP_011513574.1:n.2103+174dup
XM_011515273.1:c.2103+174dup	XP_011513575.1:n.2103+174dup
XM_011515274.1:c.1926+174dup	XP_011513576.1:n.1926+174dup
XM_011515274.2:c.1926+174dup	XP_011513576.1:n.1926+174dup
XM_017011997.1:c.2100+174dup	XP_016867486.1:n.2100+174dup
NM_000168.6:c.2103+174dup MANE Select	NP_000159.3:n.2103+174dup