Canonical Allele Identifier: CA156904137
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41965688del , CM000669.2:g.41965688del GRCh38
NC_000007.13:g.42005286del , CM000669.1:g.42005286del GRCh37
NC_000007.12:g.41971811del NCBI36
NG_008434.1:g.276335del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.3387del MANE Select ENSP00000379258.3:p.Phe1129LeufsTer?
ENST00000677288.1:c.3213del ENSP00000503986.1:p.Phe1071LeufsTer?
ENST00000677605.1:c.3387del ENSP00000503743.1:p.Phe1129LeufsTer?
ENST00000678429.1:c.3387del ENSP00000502957.1:p.Phe1129LeufsTer?
ENST00000395925.7:c.3387del ENSP00000379258.3:p.Phe1129LeufsTer?
ENST00000479210.1:n.3364del
NM_000168.5:c.3387del NP_000159.3:p.Phe1129LeufsTer?
XM_005249703.1:c.3387del XP_005249760.1:p.Phe1129LeufsTer?
XM_005249704.2:c.3387del XP_005249761.1:p.Phe1129LeufsTer?
XM_011515272.1:c.3387del XP_011513574.1:p.Phe1129LeufsTer?
XM_011515273.1:c.3387del XP_011513575.1:p.Phe1129LeufsTer?
XM_011515274.1:c.3210del XP_011513576.1:p.Phe1070LeufsTer?
XM_011515274.2:c.3210del XP_011513576.1:p.Phe1070LeufsTer?
XM_017011997.1:c.3384del XP_016867486.1:p.Phe1128LeufsTer?
NM_000168.6:c.3387del MANE Select NP_000159.3:p.Phe1129LeufsTer?