Canonical Allele Identifier: CA2695207680
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42048675del , CM000669.2:g.42048675del GRCh38
NC_000007.13:g.42088274del , CM000669.1:g.42088274del GRCh37
NC_000007.12:g.42054799del NCBI36
NG_008434.1:g.193347del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.497del MANE Select ENSP00000379258.3:p.Pro166LeufsTer?
ENST00000677288.1:c.320del ENSP00000503986.1:p.Pro107LeufsTer?
ENST00000677605.1:c.497del ENSP00000503743.1:p.Pro166LeufsTer?
ENST00000678429.1:c.497del ENSP00000502957.1:p.Pro166LeufsTer?
ENST00000395925.7:c.497del ENSP00000379258.3:p.Pro166LeufsTer?
ENST00000448703.5:c.497del ENSP00000406135.1:p.Pro166LeufsTer?
ENST00000479210.1:n.474del
NM_000168.5:c.497del NP_000159.3:p.Pro166LeufsTer?
XM_005249703.1:c.497del XP_005249760.1:p.Pro166LeufsTer?
XM_005249704.2:c.497del XP_005249761.1:p.Pro166LeufsTer?
XM_011515272.1:c.497del XP_011513574.1:p.Pro166LeufsTer?
XM_011515273.1:c.497del XP_011513575.1:p.Pro166LeufsTer?
XM_011515274.1:c.320del XP_011513576.1:p.Pro107LeufsTer?
XM_011515274.2:c.320del XP_011513576.1:p.Pro107LeufsTer?
XM_017011997.1:c.494del XP_016867486.1:p.Pro165LeufsTer?
NM_000168.6:c.497del MANE Select NP_000159.3:p.Pro166LeufsTer?