Canonical Allele Identifier: CA2695207659

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972388dup , CM000669.2:g.41972388dup	GRCh38
NC_000007.13:g.42011987dup , CM000669.1:g.42011987dup	GRCh37
NC_000007.12:g.41978512dup	NCBI36
NG_008434.1:g.269634dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2054dup MANE Select	ENSP00000379258.3:p.Arg686AlafsTer?
ENST00000677288.1:c.1880dup	ENSP00000503986.1:p.Arg628AlafsTer?
ENST00000677605.1:c.2054dup	ENSP00000503743.1:p.Arg686AlafsTer?
ENST00000678429.1:c.2054dup	ENSP00000502957.1:p.Arg686AlafsTer?
ENST00000395925.7:c.2054dup	ENSP00000379258.3:p.Arg686AlafsTer?
ENST00000479210.1:n.2031dup
NM_000168.5:c.2054dup	NP_000159.3:p.Arg686AlafsTer?
XM_005249703.1:c.2054dup	XP_005249760.1:p.Arg686AlafsTer?
XM_005249704.2:c.2054dup	XP_005249761.1:p.Arg686AlafsTer?
XM_011515272.1:c.2054dup	XP_011513574.1:p.Arg686AlafsTer?
XM_011515273.1:c.2054dup	XP_011513575.1:p.Arg686AlafsTer?
XM_011515274.1:c.1877dup	XP_011513576.1:p.Arg627AlafsTer?
XM_011515274.2:c.1877dup	XP_011513576.1:p.Arg627AlafsTer?
XM_017011997.1:c.2051dup	XP_016867486.1:p.Arg685AlafsTer?
NM_000168.6:c.2054dup MANE Select	NP_000159.3:p.Arg686AlafsTer?