Canonical Allele Identifier: CA1702661875

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41967670_41967681delinsACTTGTTTTAGC , CM000669.2:g.41967670_41967681delinsACTTGTTTTAGC	GRCh38
NC_000007.13:g.42007268_42007279delinsACTTGTTTTAGC , CM000669.1:g.42007268_42007279delinsACTTGTTTTAGC	GRCh37
NC_000007.12:g.41973793_41973804delinsACTTGTTTTAGC	NCBI36
NG_008434.1:g.274340_274351delinsGCTAAAACAAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2346_2357delinsGCTAAAACAAGT MANE Select	ENSP00000379258.3:p.Arg782=
ENST00000677288.1:c.2172_2183delinsGCTAAAACAAGT	ENSP00000503986.1:p.Arg724=
ENST00000677605.1:c.2346_2357delinsGCTAAAACAAGT	ENSP00000503743.1:p.Arg782=
ENST00000678429.1:c.2346_2357delinsGCTAAAACAAGT	ENSP00000502957.1:p.Arg782=
ENST00000395925.7:c.2346_2357delinsGCTAAAACAAGT	ENSP00000379258.3:p.Arg782=
ENST00000479210.1:n.2323_2334delinsGCTAAAACAAGT
NM_000168.5:c.2346_2357delinsGCTAAAACAAGT	NP_000159.3:p.Arg782=
XM_005249703.1:c.2346_2357delinsGCTAAAACAAGT	XP_005249760.1:p.Arg782=
XM_005249704.2:c.2346_2357delinsGCTAAAACAAGT	XP_005249761.1:p.Arg782=
XM_011515272.1:c.2346_2357delinsGCTAAAACAAGT	XP_011513574.1:p.Arg782=
XM_011515273.1:c.2346_2357delinsGCTAAAACAAGT	XP_011513575.1:p.Arg782=
XM_011515274.1:c.2169_2180delinsGCTAAAACAAGT	XP_011513576.1:p.Arg723=
XM_011515274.2:c.2169_2180delinsGCTAAAACAAGT	XP_011513576.1:p.Arg723=
XM_017011997.1:c.2343_2354delinsGCTAAAACAAGT	XP_016867486.1:p.Arg781=
NM_000168.6:c.2346_2357delinsGCTAAAACAAGT MANE Select	NP_000159.3:p.Arg782=