Canonical Allele Identifier: CA2775168983

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965786_41965787insATCCATAAGTTTTTGAAGTTTCCATTTTCTTTTTTAGCTTTTGTTTGATAAGTGAAAACTA , CM000669.2:g.41965786_41965787insATCCATAAGTTTTTGAAGTTTCCATTTTCTTTTTTAGCTTTTGTTTGATAAGTGAAAACTA	GRCh38
NC_000007.13:g.42005384_42005385insATCCATAAGTTTTTGAAGTTTCCATTTTCTTTTTTAGCTTTTGTTTGATAAGTGAAAACTA , CM000669.1:g.42005384_42005385insATCCATAAGTTTTTGAAGTTTCCATTTTCTTTTTTAGCTTTTGTTTGATAAGTGAAAACTA	GRCh37
NC_000007.12:g.41971909_41971910insATCCATAAGTTTTTGAAGTTTCCATTTTCTTTTTTAGCTTTTGTTTGATAAGTGAAAACTA	NCBI36
NG_008434.1:g.276235_276236insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3287_3288insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT MANE Select	ENSP00000379258.3:p.Gln1098PhefsTer?
ENST00000677288.1:c.3113_3114insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT	ENSP00000503986.1:p.Gln1040PhefsTer?
ENST00000677605.1:c.3287_3288insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT	ENSP00000503743.1:p.Gln1098PhefsTer?
ENST00000678429.1:c.3287_3288insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT	ENSP00000502957.1:p.Gln1098PhefsTer?
ENST00000395925.7:c.3287_3288insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT	ENSP00000379258.3:p.Gln1098PhefsTer?
ENST00000479210.1:n.3264_3265insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT
NM_000168.5:c.3287_3288insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT	NP_000159.3:p.Gln1098PhefsTer?
XM_005249703.1:c.3287_3288insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT	XP_005249760.1:p.Gln1098PhefsTer?
XM_005249704.2:c.3287_3288insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT	XP_005249761.1:p.Gln1098PhefsTer?
XM_011515272.1:c.3287_3288insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT	XP_011513574.1:p.Gln1098PhefsTer?
XM_011515273.1:c.3287_3288insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT	XP_011513575.1:p.Gln1098PhefsTer?
XM_011515274.1:c.3110_3111insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT	XP_011513576.1:p.Gln1039PhefsTer?
XM_011515274.2:c.3110_3111insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT	XP_011513576.1:p.Gln1039PhefsTer?
XM_017011997.1:c.3284_3285insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT	XP_016867486.1:p.Gln1097PhefsTer?
NM_000168.6:c.3287_3288insAGTTTTCACTTATCAAACAAAAGCTAAAAAAGAAAATGGAAACTTCAAAAACTTATGGATT MANE Select	NP_000159.3:p.Gln1098PhefsTer?