Canonical Allele Identifier: CA573911007

Gene: GLI3

Linked Data

• gnomAD v2: 7-42088262-C-CA
• MyVariant Identifiers: chr7:g.42088262_42088263insA (hg19) ; chr7:g.42048663_42048664insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048663_42048664insA , CM000669.2:g.42048663_42048664insA	GRCh38
NC_000007.13:g.42088262_42088263insA , CM000669.1:g.42088262_42088263insA	GRCh37
NC_000007.12:g.42054787_42054788insA	NCBI36
NG_008434.1:g.193356_193357insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.506_507insT MANE Select	ENSP00000379258.3:p.Asp170GlyfsTer6
ENST00000677288.1:c.329_330insT	ENSP00000503986.1:p.Asp111GlyfsTer6
ENST00000677605.1:c.506_507insT	ENSP00000503743.1:p.Asp170GlyfsTer6
ENST00000678429.1:c.506_507insT	ENSP00000502957.1:p.Asp170GlyfsTer6
ENST00000395925.7:c.506_507insT	ENSP00000379258.3:p.Asp170GlyfsTer6
ENST00000448703.5:c.506_507insT	ENSP00000406135.1:p.Asp170GlyfsTer6
ENST00000479210.1:n.483_484insT
NM_000168.5:c.506_507insT	NP_000159.3:p.Asp170GlyfsTer6
XM_005249703.1:c.506_507insT	XP_005249760.1:p.Asp170GlyfsTer6
XM_005249704.2:c.506_507insT	XP_005249761.1:p.Asp170GlyfsTer6
XM_011515272.1:c.506_507insT	XP_011513574.1:p.Asp170GlyfsTer6
XM_011515273.1:c.506_507insT	XP_011513575.1:p.Asp170GlyfsTer6
XM_011515274.1:c.329_330insT	XP_011513576.1:p.Asp111GlyfsTer6
XM_011515274.2:c.329_330insT	XP_011513576.1:p.Asp111GlyfsTer6
XM_017011997.1:c.503_504insT	XP_016867486.1:p.Asp169GlyfsTer6
NM_000168.6:c.506_507insT MANE Select	NP_000159.3:p.Asp170GlyfsTer6