Canonical Allele Identifier: CA1702661915

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41967774_41967775delinsGT , CM000669.2:g.41967774_41967775delinsGT	GRCh38
NC_000007.13:g.42007372_42007373delinsGT , CM000669.1:g.42007372_42007373delinsGT	GRCh37
NC_000007.12:g.41973897_41973898delinsGT	NCBI36
NG_008434.1:g.274246_274247delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2252_2253delinsAC MANE Select	ENSP00000379258.3:p.Asp751=
ENST00000677288.1:c.2078_2079delinsAC	ENSP00000503986.1:p.Asp693=
ENST00000677605.1:c.2252_2253delinsAC	ENSP00000503743.1:p.Asp751=
ENST00000678429.1:c.2252_2253delinsAC	ENSP00000502957.1:p.Asp751=
ENST00000395925.7:c.2252_2253delinsAC	ENSP00000379258.3:p.Asp751=
ENST00000479210.1:n.2229_2230delinsAC
NM_000168.5:c.2252_2253delinsAC	NP_000159.3:p.Asp751=
XM_005249703.1:c.2252_2253delinsAC	XP_005249760.1:p.Asp751=
XM_005249704.2:c.2252_2253delinsAC	XP_005249761.1:p.Asp751=
XM_011515272.1:c.2252_2253delinsAC	XP_011513574.1:p.Asp751=
XM_011515273.1:c.2252_2253delinsAC	XP_011513575.1:p.Asp751=
XM_011515274.1:c.2075_2076delinsAC	XP_011513576.1:p.Asp692=
XM_011515274.2:c.2075_2076delinsAC	XP_011513576.1:p.Asp692=
XM_017011997.1:c.2249_2250delinsAC	XP_016867486.1:p.Asp750=
NM_000168.6:c.2252_2253delinsAC MANE Select	NP_000159.3:p.Asp751=