Canonical Allele Identifier: CA2514693368
Gene: GLI2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120989058del , CM000664.2:g.120989058del GRCh38
NC_000002.11:g.121746634del , CM000664.1:g.121746634del GRCh37
NC_000002.10:g.121463104del NCBI36
NG_009030.1:g.196768del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361492.9:c.3093del MANE Select ENSP00000354586.5:p.Glu1033ArgfsTer?
ENST00000452319.6:c.3144del ENSP00000390436.1:p.Glu1050ArgfsTer?
ENST00000341310.10:c.*2192del ENSP00000344473.6:n.*2192del
ENST00000361492.8:c.3144del ENSP00000354586.4:p.Glu1050ArgfsTer?
ENST00000438299.5:c.*2243del ENSP00000400593.1:n.*2243del
ENST00000445186.5:c.*2243del ENSP00000397488.1:n.*2243del
ENST00000452319.5:c.3144del ENSP00000390436.1:p.Glu1050ArgfsTer?
ENST00000452692.5:c.*2192del ENSP00000403715.1:n.*2192del
NM_005270.4:c.3144del NP_005261.2:p.Glu1050ArgfsTer?
XM_006712422.1:c.3093del XP_006712485.1:p.Glu1033ArgfsTer?
XM_011510969.1:c.3126del XP_011509271.1:p.Glu1044ArgfsTer?
XM_011510970.1:c.3003del XP_011509272.1:p.Glu1003ArgfsTer?
XM_011510971.1:c.2949del XP_011509273.1:p.Glu985ArgfsTer?
XM_011510972.1:c.2949del XP_011509274.1:p.Glu985ArgfsTer?
XM_011510973.1:c.2769del XP_011509275.1:p.Glu925ArgfsTer?
XM_011510974.1:c.2718del XP_011509276.1:p.Glu908ArgfsTer?
XM_006712422.3:c.3093del XP_006712485.1:p.Glu1033ArgfsTer?
XM_011510969.2:c.3396del XP_011509271.2:p.Glu1134ArgfsTer?
XM_011510970.2:c.3003del XP_011509272.1:p.Glu1003ArgfsTer?
XM_011510971.2:c.2949del XP_011509273.1:p.Glu985ArgfsTer?
XM_011510972.2:c.3045del XP_011509274.2:p.Glu1017ArgfsTer?
XM_011510973.2:c.2769del XP_011509275.1:p.Glu925ArgfsTer?
XM_011510974.2:c.2718del XP_011509276.1:p.Glu908ArgfsTer?
XM_017003818.1:c.3345del XP_016859307.1:p.Glu1117ArgfsTer?
XM_024452794.1:c.3144del XP_024308562.1:p.Glu1050ArgfsTer?
XM_024452795.1:c.3144del XP_024308563.1:p.Glu1050ArgfsTer?
NM_001371271.1:c.3144del NP_001358200.1:p.Glu1050ArgfsTer?
NM_001374353.1:c.3093del MANE Select NP_001361282.1:p.Glu1033ArgfsTer?
NM_001374354.1:c.2718del NP_001361283.1:p.Glu908ArgfsTer?
NM_005270.5:c.3144del NP_005261.2:p.Glu1050ArgfsTer?