Canonical Allele Identifier: CA2521572352

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965824_41965825insCG , CM000669.2:g.41965824_41965825insCG	GRCh38
NC_000007.13:g.42005422_42005423insCG , CM000669.1:g.42005422_42005423insCG	GRCh37
NC_000007.12:g.41971947_41971948insCG	NCBI36
NG_008434.1:g.276196_276197insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3248_3249insCG MANE Select	ENSP00000379258.3:p.Ala1084ValfsTer4
ENST00000677288.1:c.3074_3075insCG	ENSP00000503986.1:p.Ala1026ValfsTer4
ENST00000677605.1:c.3248_3249insCG	ENSP00000503743.1:p.Ala1084ValfsTer4
ENST00000678429.1:c.3248_3249insCG	ENSP00000502957.1:p.Ala1084ValfsTer4
ENST00000395925.7:c.3248_3249insCG	ENSP00000379258.3:p.Ala1084ValfsTer4
ENST00000479210.1:n.3225_3226insCG
NM_000168.5:c.3248_3249insCG	NP_000159.3:p.Ala1084ValfsTer4
XM_005249703.1:c.3248_3249insCG	XP_005249760.1:p.Ala1084ValfsTer4
XM_005249704.2:c.3248_3249insCG	XP_005249761.1:p.Ala1084ValfsTer4
XM_011515272.1:c.3248_3249insCG	XP_011513574.1:p.Ala1084ValfsTer4
XM_011515273.1:c.3248_3249insCG	XP_011513575.1:p.Ala1084ValfsTer4
XM_011515274.1:c.3071_3072insCG	XP_011513576.1:p.Ala1025ValfsTer4
XM_011515274.2:c.3071_3072insCG	XP_011513576.1:p.Ala1025ValfsTer4
XM_017011997.1:c.3245_3246insCG	XP_016867486.1:p.Ala1083ValfsTer4
NM_000168.6:c.3248_3249insCG MANE Select	NP_000159.3:p.Ala1084ValfsTer4