Canonical Allele Identifier: CA2682512070

Gene: GLI3

Linked Data

• gnomAD v4: 7-42048615-A-ACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048615_42048616insCCCC , CM000669.2:g.42048615_42048616insCCCC	GRCh38
NC_000007.13:g.42088214_42088215insCCCC , CM000669.1:g.42088214_42088215insCCCC	GRCh37
NC_000007.12:g.42054739_42054740insCCCC	NCBI36
NG_008434.1:g.193404_193405insGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.554_555insGGGG MANE Select	ENSP00000379258.3:p.Ser186GlyfsTer14
ENST00000677288.1:c.377_378insGGGG	ENSP00000503986.1:p.Ser127GlyfsTer14
ENST00000677605.1:c.554_555insGGGG	ENSP00000503743.1:p.Ser186GlyfsTer14
ENST00000678429.1:c.554_555insGGGG	ENSP00000502957.1:p.Ser186GlyfsTer14
ENST00000395925.7:c.554_555insGGGG	ENSP00000379258.3:p.Ser186GlyfsTer14
ENST00000479210.1:n.531_532insGGGG
NM_000168.5:c.554_555insGGGG	NP_000159.3:p.Ser186GlyfsTer14
XM_005249703.1:c.554_555insGGGG	XP_005249760.1:p.Ser186GlyfsTer14
XM_005249704.2:c.554_555insGGGG	XP_005249761.1:p.Ser186GlyfsTer14
XM_011515272.1:c.554_555insGGGG	XP_011513574.1:p.Ser186GlyfsTer14
XM_011515273.1:c.554_555insGGGG	XP_011513575.1:p.Ser186GlyfsTer14
XM_011515274.1:c.377_378insGGGG	XP_011513576.1:p.Ser127GlyfsTer14
XM_011515274.2:c.377_378insGGGG	XP_011513576.1:p.Ser127GlyfsTer14
XM_017011997.1:c.551_552insGGGG	XP_016867486.1:p.Ser185GlyfsTer14
NM_000168.6:c.554_555insGGGG MANE Select	NP_000159.3:p.Ser186GlyfsTer14